dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs747169947
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:209693168 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- T>C
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.000008 (2/246684, GnomAD_exome)C=0.000008 (1/119906, ExAC)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- MAP2 : Missense Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
Help
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 246684 | T=0.999992 | C=0.000008 |
| gnomAD - Exomes | European | Sub | 133508 | T=0.999985 | C=0.000015 |
| gnomAD - Exomes | Asian | Sub | 47998 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | American | Sub | 33812 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | African | Sub | 15814 | T=1.00000 | C=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9642 | T=1.0000 | C=0.0000 |
| gnomAD - Exomes | Other | Sub | 5910 | T=1.0000 | C=0.0000 |
| ExAC | Global | Study-wide | 119906 | T=0.999992 | C=0.000008 |
| ExAC | Europe | Sub | 72962 | T=0.99999 | C=0.00001 |
| ExAC | Asian | Sub | 24484 | T=1.00000 | C=0.00000 |
| ExAC | American | Sub | 11552 | T=1.00000 | C=0.00000 |
| ExAC | African | Sub | 10010 | T=1.00000 | C=0.00000 |
| ExAC | Other | Sub | 898 | T=1.000 | C=0.000 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.209693168T>C |
| GRCh37.p13 chr 2 | NC_000002.11:g.210557892T>C |
| MAP2 RefSeqGene | NG_052836.1:g.274122T>C |
Gene: MAP2, microtubule associated protein 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| MAP2 transcript variant 5 |
NM_001039538.2:c.455-7109… NM_001039538.2:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 8 |
NM_001363913.2:c.455-7109… NM_001363913.2:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 48 |
NM_001375474.1:c.455-7109… NM_001375474.1:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 11 |
NM_001375493.1:c.455-7109… NM_001375493.1:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 59 |
NM_001375494.1:c.455-7109… NM_001375494.1:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 42 |
NM_001375495.1:c.455-3374… NM_001375495.1:c.455-3374T>C |
N/A | Intron Variant |
| MAP2 transcript variant 49 |
NM_001375496.1:c.455-7112… NM_001375496.1:c.455-7112T>C |
N/A | Intron Variant |
| MAP2 transcript variant 55 |
NM_001375497.1:c.452-7109… NM_001375497.1:c.452-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 40 |
NM_001375498.1:c.452-3374… NM_001375498.1:c.452-3374T>C |
N/A | Intron Variant |
| MAP2 transcript variant 14 |
NM_001375499.1:c.455-7109… NM_001375499.1:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 15 |
NM_001375508.1:c.455-7109… NM_001375508.1:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 47 |
NM_001375509.1:c.544+442T… NM_001375509.1:c.544+442T>C |
N/A | Intron Variant |
| MAP2 transcript variant 43 |
NM_001375510.1:c.455-3374… NM_001375510.1:c.455-3374T>C |
N/A | Intron Variant |
| MAP2 transcript variant 51 |
NM_001375529.1:c.452-7109… NM_001375529.1:c.452-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 52 |
NM_001375530.1:c.455-7112… NM_001375530.1:c.455-7112T>C |
N/A | Intron Variant |
| MAP2 transcript variant 53 |
NM_001375532.1:c.455-7112… NM_001375532.1:c.455-7112T>C |
N/A | Intron Variant |
| MAP2 transcript variant 54 |
NM_001375533.1:c.452-7109… NM_001375533.1:c.452-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 46 |
NM_001375535.1:c.697+2320… NM_001375535.1:c.697+2320T>C |
N/A | Intron Variant |
| MAP2 transcript variant 44 |
NM_001375536.1:c.455-3374… NM_001375536.1:c.455-3374T>C |
N/A | Intron Variant |
| MAP2 transcript variant 45 |
NM_001375538.1:c.455-3374… NM_001375538.1:c.455-3374T>C |
N/A | Intron Variant |
| MAP2 transcript variant 41 |
NM_001375540.1:c.452-3374… NM_001375540.1:c.452-3374T>C |
N/A | Intron Variant |
| MAP2 transcript variant 50 |
NM_001375541.1:c.455-3749… NM_001375541.1:c.455-3749T>C |
N/A | Intron Variant |
| MAP2 transcript variant 56 |
NM_001375542.1:c.452-7112… NM_001375542.1:c.452-7112T>C |
N/A | Intron Variant |
| MAP2 transcript variant 57 |
NM_001375553.1:c.-17-3374… NM_001375553.1:c.-17-3374T>C |
N/A | Intron Variant |
| MAP2 transcript variant 58 |
NM_001375554.1:c.-17-3374… NM_001375554.1:c.-17-3374T>C |
N/A | Intron Variant |
| MAP2 transcript variant 60 |
NM_001375583.1:c.455-7109… NM_001375583.1:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant 2 | NM_031845.3:c.455-7109T>C | N/A | Intron Variant |
| MAP2 transcript variant 4 | NM_031847.3:c.455-7109T>C | N/A | Intron Variant |
| MAP2 transcript variant 35 | NM_001375557.1:c.524T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 16 | NP_001362486.1:p.Ile175Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 1 | NM_002374.4:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 1 | NP_002365.3:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 10 | NM_001375534.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 1 | NP_001362463.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 33 | NM_001375555.1:c.524T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 15 | NP_001362484.1:p.Ile175Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 17 | NM_001375504.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 7 | NP_001362433.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 16 | NM_001375528.1:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 6 | NP_001362457.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 26 | NM_001375506.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 12 | NP_001362435.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 67 | NM_001375505.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 1 | NP_001362434.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 39 | NM_001375500.1:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 18 | NP_001362429.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 30 | NM_001375548.1:c.983T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 33 | NP_001362477.1:p.Ile328Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 23 | NM_001375527.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 12 | NP_001362456.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 24 | NM_001375543.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 31 | NP_001362472.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 6 | NM_001363910.2:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 6 | NP_001350839.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 7 | NM_001363911.2:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 6 | NP_001350840.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 36 | NM_001375551.1:c.524T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 16 | NP_001362480.1:p.Ile175Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 21 | NM_001375539.1:c.1232T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 10 | NP_001362468.1:p.Ile411Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 34 | NM_001375556.1:c.524T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 16 | NP_001362485.1:p.Ile175Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 32 | NM_001375507.1:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 14 | NP_001362436.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 29 | NM_001375546.1:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 32 | NP_001362475.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 18 | NM_001375537.1:c.1244T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 8 | NP_001362466.1:p.Ile415Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 9 | NM_001375526.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 1 | NP_001362455.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 19 | NM_001375501.1:c.1244T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 8 | NP_001362430.1:p.Ile415Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 37 | NM_001375558.1:c.524T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 17 | NP_001362487.1:p.Ile175Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 22 | NM_001375503.1:c.1229T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 11 | NP_001362432.1:p.Ile410Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 38 | NM_001375559.1:c.524T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 34 | NP_001362488.1:p.Ile175Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 12 | NM_001375552.1:c.524T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 16 | NP_001362481.1:p.Ile175Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 20 | NM_001375531.1:c.1244T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 9 | NP_001362460.1:p.Ile415Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 31 | NM_001375502.1:c.995T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 13 | NP_001362431.1:p.Ile332Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 25 | NM_001375544.1:c.995T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 13 | NP_001362473.1:p.Ile332Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 28 | NM_001375545.1:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform 14 | NP_001362474.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant 61 | NR_164694.1:n. | N/A | Intron Variant |
| MAP2 transcript variant 62 | NR_164695.1:n. | N/A | Intron Variant |
| MAP2 transcript variant 63 | NR_164696.1:n. | N/A | Intron Variant |
| MAP2 transcript variant 64 | NR_164697.1:n. | N/A | Intron Variant |
| MAP2 transcript variant 65 | NR_164698.1:n. | N/A | Intron Variant |
| MAP2 transcript variant 66 | NR_164699.1:n. | N/A | Intron Variant |
| MAP2 transcript variant X22 |
XM_047444390.1:c.455-7109… XM_047444390.1:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant X23 |
XM_047444391.1:c.455-7109… XM_047444391.1:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant X24 |
XM_047444392.1:c.455-7109… XM_047444392.1:c.455-7109T>C |
N/A | Intron Variant |
| MAP2 transcript variant X25 |
XM_047444393.1:c.455-7112… XM_047444393.1:c.455-7112T>C |
N/A | Intron Variant |
| MAP2 transcript variant X1 | XM_017004112.3:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X1 | XP_016859601.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X2 | XM_024452893.2:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X1 | XP_024308661.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X3 | XM_011511195.3:c.995T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X2 | XP_011509497.1:p.Ile332Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X4 | XM_024452894.2:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X3 | XP_024308662.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X5 | XM_011511196.4:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X3 | XP_011509498.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X6 | XM_047444386.1:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X3 | XP_047300342.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X7 | XM_017004113.3:c.983T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X4 | XP_016859602.1:p.Ile328Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X8 | XM_024452895.2:c.983T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X4 | XP_024308663.1:p.Ile328Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X9 | XM_011511197.4:c.983T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X4 | XP_011509499.1:p.Ile328Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X10 | XM_047444387.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X5 | XP_047300343.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X11 | XM_024452896.2:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X6 | XP_024308664.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X12 | XM_017004114.3:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X6 | XP_016859603.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X13 | XM_047444388.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X7 | XP_047300344.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X14 | XM_047444389.1:c.998T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X7 | XP_047300345.1:p.Ile333Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X15 | XM_024452897.2:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X8 | XP_024308665.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X16 | XM_024452899.2:c.983T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X9 | XP_024308667.1:p.Ile328Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X17 | XM_017004116.3:c.986T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X10 | XP_016859605.1:p.Ile329Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X18 | XM_024452902.2:c.995T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X11 | XP_024308670.1:p.Ile332Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X19 | XM_024452907.2:c.983T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X12 | XP_024308675.1:p.Ile328Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X20 | XM_017004128.3:c.983T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X13 | XP_016859617.1:p.Ile328Thr | I (Ile) > T (Thr) | Missense Variant |
| MAP2 transcript variant X21 | XM_017004129.3:c.983T>C | I [ATA] > T [ACA] | Coding Sequence Variant |
| microtubule-associated protein 2 isoform X14 | XP_016859618.1:p.Ile328Thr | I (Ile) > T (Thr) | Missense Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | T= | C |
|---|---|---|
| GRCh38.p14 chr 2 | NC_000002.12:g.209693168= | NC_000002.12:g.209693168T>C |
| GRCh37.p13 chr 2 | NC_000002.11:g.210557892= | NC_000002.11:g.210557892T>C |
| MAP2 RefSeqGene | NG_052836.1:g.274122= | NG_052836.1:g.274122T>C |
| MAP2 transcript variant 1 | NM_002374.4:c.998= | NM_002374.4:c.998T>C |
| MAP2 transcript variant 1 | NM_002374.3:c.998= | NM_002374.3:c.998T>C |
| MAP2 transcript variant 6 | NM_001363910.2:c.986= | NM_001363910.2:c.986T>C |
| MAP2 transcript variant 6 | NM_001363910.1:c.986= | NM_001363910.1:c.986T>C |
| MAP2 transcript variant 7 | NM_001363911.2:c.986= | NM_001363911.2:c.986T>C |
| MAP2 transcript variant 7 | NM_001363911.1:c.986= | NM_001363911.1:c.986T>C |
| MAP2 transcript variant 17 | NM_001375504.1:c.998= | NM_001375504.1:c.998T>C |
| MAP2 transcript variant 19 | NM_001375501.1:c.1244= | NM_001375501.1:c.1244T>C |
| MAP2 transcript variant 22 | NM_001375503.1:c.1229= | NM_001375503.1:c.1229T>C |
| MAP2 transcript variant 18 | NM_001375537.1:c.1244= | NM_001375537.1:c.1244T>C |
| MAP2 transcript variant 20 | NM_001375531.1:c.1244= | NM_001375531.1:c.1244T>C |
| MAP2 transcript variant 21 | NM_001375539.1:c.1232= | NM_001375539.1:c.1232T>C |
| MAP2 transcript variant 67 | NM_001375505.1:c.998= | NM_001375505.1:c.998T>C |
| MAP2 transcript variant 26 | NM_001375506.1:c.998= | NM_001375506.1:c.998T>C |
| MAP2 transcript variant 32 | NM_001375507.1:c.986= | NM_001375507.1:c.986T>C |
| MAP2 transcript variant 31 | NM_001375502.1:c.995= | NM_001375502.1:c.995T>C |
| MAP2 transcript variant 10 | NM_001375534.1:c.998= | NM_001375534.1:c.998T>C |
| MAP2 transcript variant 25 | NM_001375544.1:c.995= | NM_001375544.1:c.995T>C |
| MAP2 transcript variant 24 | NM_001375543.1:c.998= | NM_001375543.1:c.998T>C |
| MAP2 transcript variant 30 | NM_001375548.1:c.983= | NM_001375548.1:c.983T>C |
| MAP2 transcript variant 29 | NM_001375546.1:c.986= | NM_001375546.1:c.986T>C |
| MAP2 transcript variant 28 | NM_001375545.1:c.986= | NM_001375545.1:c.986T>C |
| MAP2 transcript variant 9 | NM_001375526.1:c.998= | NM_001375526.1:c.998T>C |
| MAP2 transcript variant 23 | NM_001375527.1:c.998= | NM_001375527.1:c.998T>C |
| MAP2 transcript variant 16 | NM_001375528.1:c.986= | NM_001375528.1:c.986T>C |
| MAP2 transcript variant 12 | NM_001375552.1:c.524= | NM_001375552.1:c.524T>C |
| MAP2 transcript variant 33 | NM_001375555.1:c.524= | NM_001375555.1:c.524T>C |
| MAP2 transcript variant 34 | NM_001375556.1:c.524= | NM_001375556.1:c.524T>C |
| MAP2 transcript variant 37 | NM_001375558.1:c.524= | NM_001375558.1:c.524T>C |
| MAP2 transcript variant 36 | NM_001375551.1:c.524= | NM_001375551.1:c.524T>C |
| MAP2 transcript variant 35 | NM_001375557.1:c.524= | NM_001375557.1:c.524T>C |
| MAP2 transcript variant 38 | NM_001375559.1:c.524= | NM_001375559.1:c.524T>C |
| MAP2 transcript variant 39 | NM_001375500.1:c.986= | NM_001375500.1:c.986T>C |
| MAP2 transcript variant X5 | XM_011511196.4:c.986= | XM_011511196.4:c.986T>C |
| MAP2 transcript variant X6 | XM_011511196.3:c.986= | XM_011511196.3:c.986T>C |
| MAP2 transcript variant X13 | XM_011511196.2:c.986= | XM_011511196.2:c.986T>C |
| MAP2 transcript variant X13 | XM_011511196.1:c.986= | XM_011511196.1:c.986T>C |
| MAP2 transcript variant X9 | XM_011511197.4:c.983= | XM_011511197.4:c.983T>C |
| MAP2 transcript variant X8 | XM_011511197.3:c.983= | XM_011511197.3:c.983T>C |
| MAP2 transcript variant X14 | XM_011511197.2:c.983= | XM_011511197.2:c.983T>C |
| MAP2 transcript variant X14 | XM_011511197.1:c.983= | XM_011511197.1:c.983T>C |
| MAP2 transcript variant X3 | XM_011511195.3:c.995= | XM_011511195.3:c.995T>C |
| MAP2 transcript variant X4 | XM_011511195.2:c.995= | XM_011511195.2:c.995T>C |
| MAP2 transcript variant X12 | XM_011511195.1:c.995= | XM_011511195.1:c.995T>C |
| MAP2 transcript variant X1 | XM_017004112.3:c.998= | XM_017004112.3:c.998T>C |
| MAP2 transcript variant X2 | XM_017004112.2:c.998= | XM_017004112.2:c.998T>C |
| MAP2 transcript variant X11 | XM_017004112.1:c.998= | XM_017004112.1:c.998T>C |
| MAP2 transcript variant X17 | XM_017004116.3:c.986= | XM_017004116.3:c.986T>C |
| MAP2 transcript variant X13 | XM_017004116.2:c.986= | XM_017004116.2:c.986T>C |
| MAP2 transcript variant X18 | XM_017004116.1:c.986= | XM_017004116.1:c.986T>C |
| MAP2 transcript variant X7 | XM_017004113.3:c.983= | XM_017004113.3:c.983T>C |
| MAP2 transcript variant X9 | XM_017004113.2:c.983= | XM_017004113.2:c.983T>C |
| MAP2 transcript variant X15 | XM_017004113.1:c.983= | XM_017004113.1:c.983T>C |
| MAP2 transcript variant X20 | XM_017004128.3:c.983= | XM_017004128.3:c.983T>C |
| MAP2 transcript variant X32 | XM_017004128.2:c.983= | XM_017004128.2:c.983T>C |
| MAP2 transcript variant X30 | XM_017004128.1:c.983= | XM_017004128.1:c.983T>C |
| MAP2 transcript variant X21 | XM_017004129.3:c.983= | XM_017004129.3:c.983T>C |
| MAP2 transcript variant X33 | XM_017004129.2:c.983= | XM_017004129.2:c.983T>C |
| MAP2 transcript variant X31 | XM_017004129.1:c.983= | XM_017004129.1:c.983T>C |
| MAP2 transcript variant X12 | XM_017004114.3:c.998= | XM_017004114.3:c.998T>C |
| MAP2 transcript variant X11 | XM_017004114.2:c.998= | XM_017004114.2:c.998T>C |
| MAP2 transcript variant X16 | XM_017004114.1:c.998= | XM_017004114.1:c.998T>C |
| MAP2 transcript variant X4 | XM_024452894.2:c.986= | XM_024452894.2:c.986T>C |
| MAP2 transcript variant X5 | XM_024452894.1:c.986= | XM_024452894.1:c.986T>C |
| MAP2 transcript variant X8 | XM_024452895.2:c.983= | XM_024452895.2:c.983T>C |
| MAP2 transcript variant X7 | XM_024452895.1:c.983= | XM_024452895.1:c.983T>C |
| MAP2 transcript variant X11 | XM_024452896.2:c.998= | XM_024452896.2:c.998T>C |
| MAP2 transcript variant X10 | XM_024452896.1:c.998= | XM_024452896.1:c.998T>C |
| MAP2 transcript variant X2 | XM_024452893.2:c.998= | XM_024452893.2:c.998T>C |
| MAP2 transcript variant X3 | XM_024452893.1:c.998= | XM_024452893.1:c.998T>C |
| MAP2 transcript variant X15 | XM_024452897.2:c.986= | XM_024452897.2:c.986T>C |
| MAP2 transcript variant X12 | XM_024452897.1:c.986= | XM_024452897.1:c.986T>C |
| MAP2 transcript variant X16 | XM_024452899.2:c.983= | XM_024452899.2:c.983T>C |
| MAP2 transcript variant X14 | XM_024452899.1:c.983= | XM_024452899.1:c.983T>C |
| MAP2 transcript variant X18 | XM_024452902.2:c.995= | XM_024452902.2:c.995T>C |
| MAP2 transcript variant X18 | XM_024452902.1:c.995= | XM_024452902.1:c.995T>C |
| MAP2 transcript variant X19 | XM_024452907.2:c.983= | XM_024452907.2:c.983T>C |
| MAP2 transcript variant X28 | XM_024452907.1:c.983= | XM_024452907.1:c.983T>C |
| MAP2 transcript variant X10 | XM_047444387.1:c.998= | XM_047444387.1:c.998T>C |
| MAP2 transcript variant X13 | XM_047444388.1:c.998= | XM_047444388.1:c.998T>C |
| MAP2 transcript variant X6 | XM_047444386.1:c.986= | XM_047444386.1:c.986T>C |
| MAP2 transcript variant X14 | XM_047444389.1:c.998= | XM_047444389.1:c.998T>C |
| MAP2 transcript variant 3 | NM_031846.1:c.998= | NM_031846.1:c.998T>C |
| microtubule-associated protein 2 isoform 1 | NP_002365.3:p.Ile333= | NP_002365.3:p.Ile333Thr |
| microtubule-associated protein 2 isoform 6 | NP_001350839.1:p.Ile329= | NP_001350839.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform 6 | NP_001350840.1:p.Ile329= | NP_001350840.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform 7 | NP_001362433.1:p.Ile333= | NP_001362433.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform 8 | NP_001362430.1:p.Ile415= | NP_001362430.1:p.Ile415Thr |
| microtubule-associated protein 2 isoform 11 | NP_001362432.1:p.Ile410= | NP_001362432.1:p.Ile410Thr |
| microtubule-associated protein 2 isoform 8 | NP_001362466.1:p.Ile415= | NP_001362466.1:p.Ile415Thr |
| microtubule-associated protein 2 isoform 9 | NP_001362460.1:p.Ile415= | NP_001362460.1:p.Ile415Thr |
| microtubule-associated protein 2 isoform 10 | NP_001362468.1:p.Ile411= | NP_001362468.1:p.Ile411Thr |
| microtubule-associated protein 2 isoform 1 | NP_001362434.1:p.Ile333= | NP_001362434.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform 12 | NP_001362435.1:p.Ile333= | NP_001362435.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform 14 | NP_001362436.1:p.Ile329= | NP_001362436.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform 13 | NP_001362431.1:p.Ile332= | NP_001362431.1:p.Ile332Thr |
| microtubule-associated protein 2 isoform 1 | NP_001362463.1:p.Ile333= | NP_001362463.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform 13 | NP_001362473.1:p.Ile332= | NP_001362473.1:p.Ile332Thr |
| microtubule-associated protein 2 isoform 31 | NP_001362472.1:p.Ile333= | NP_001362472.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform 33 | NP_001362477.1:p.Ile328= | NP_001362477.1:p.Ile328Thr |
| microtubule-associated protein 2 isoform 32 | NP_001362475.1:p.Ile329= | NP_001362475.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform 14 | NP_001362474.1:p.Ile329= | NP_001362474.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform 1 | NP_001362455.1:p.Ile333= | NP_001362455.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform 12 | NP_001362456.1:p.Ile333= | NP_001362456.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform 6 | NP_001362457.1:p.Ile329= | NP_001362457.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform 16 | NP_001362481.1:p.Ile175= | NP_001362481.1:p.Ile175Thr |
| microtubule-associated protein 2 isoform 15 | NP_001362484.1:p.Ile175= | NP_001362484.1:p.Ile175Thr |
| microtubule-associated protein 2 isoform 16 | NP_001362485.1:p.Ile175= | NP_001362485.1:p.Ile175Thr |
| microtubule-associated protein 2 isoform 17 | NP_001362487.1:p.Ile175= | NP_001362487.1:p.Ile175Thr |
| microtubule-associated protein 2 isoform 16 | NP_001362480.1:p.Ile175= | NP_001362480.1:p.Ile175Thr |
| microtubule-associated protein 2 isoform 16 | NP_001362486.1:p.Ile175= | NP_001362486.1:p.Ile175Thr |
| microtubule-associated protein 2 isoform 34 | NP_001362488.1:p.Ile175= | NP_001362488.1:p.Ile175Thr |
| microtubule-associated protein 2 isoform 18 | NP_001362429.1:p.Ile329= | NP_001362429.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform X3 | XP_011509498.1:p.Ile329= | XP_011509498.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform X4 | XP_011509499.1:p.Ile328= | XP_011509499.1:p.Ile328Thr |
| microtubule-associated protein 2 isoform X2 | XP_011509497.1:p.Ile332= | XP_011509497.1:p.Ile332Thr |
| microtubule-associated protein 2 isoform X1 | XP_016859601.1:p.Ile333= | XP_016859601.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform X10 | XP_016859605.1:p.Ile329= | XP_016859605.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform X4 | XP_016859602.1:p.Ile328= | XP_016859602.1:p.Ile328Thr |
| microtubule-associated protein 2 isoform X13 | XP_016859617.1:p.Ile328= | XP_016859617.1:p.Ile328Thr |
| microtubule-associated protein 2 isoform X14 | XP_016859618.1:p.Ile328= | XP_016859618.1:p.Ile328Thr |
| microtubule-associated protein 2 isoform X6 | XP_016859603.1:p.Ile333= | XP_016859603.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform X3 | XP_024308662.1:p.Ile329= | XP_024308662.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform X4 | XP_024308663.1:p.Ile328= | XP_024308663.1:p.Ile328Thr |
| microtubule-associated protein 2 isoform X6 | XP_024308664.1:p.Ile333= | XP_024308664.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform X1 | XP_024308661.1:p.Ile333= | XP_024308661.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform X8 | XP_024308665.1:p.Ile329= | XP_024308665.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform X9 | XP_024308667.1:p.Ile328= | XP_024308667.1:p.Ile328Thr |
| microtubule-associated protein 2 isoform X11 | XP_024308670.1:p.Ile332= | XP_024308670.1:p.Ile332Thr |
| microtubule-associated protein 2 isoform X12 | XP_024308675.1:p.Ile328= | XP_024308675.1:p.Ile328Thr |
| microtubule-associated protein 2 isoform X5 | XP_047300343.1:p.Ile333= | XP_047300343.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform X7 | XP_047300344.1:p.Ile333= | XP_047300344.1:p.Ile333Thr |
| microtubule-associated protein 2 isoform X3 | XP_047300342.1:p.Ile329= | XP_047300342.1:p.Ile329Thr |
| microtubule-associated protein 2 isoform X7 | XP_047300345.1:p.Ile333= | XP_047300345.1:p.Ile333Thr |
| MAP2 transcript variant 5 | NM_001039538.1:c.455-7109= | NM_001039538.1:c.455-7109T>C |
| MAP2 transcript variant 5 | NM_001039538.2:c.455-7109= | NM_001039538.2:c.455-7109T>C |
| MAP2 transcript variant 8 | NM_001363913.2:c.455-7109= | NM_001363913.2:c.455-7109T>C |
| MAP2 transcript variant 48 | NM_001375474.1:c.455-7109= | NM_001375474.1:c.455-7109T>C |
| MAP2 transcript variant 11 | NM_001375493.1:c.455-7109= | NM_001375493.1:c.455-7109T>C |
| MAP2 transcript variant 59 | NM_001375494.1:c.455-7109= | NM_001375494.1:c.455-7109T>C |
| MAP2 transcript variant 42 | NM_001375495.1:c.455-3374= | NM_001375495.1:c.455-3374T>C |
| MAP2 transcript variant 49 | NM_001375496.1:c.455-7112= | NM_001375496.1:c.455-7112T>C |
| MAP2 transcript variant 55 | NM_001375497.1:c.452-7109= | NM_001375497.1:c.452-7109T>C |
| MAP2 transcript variant 40 | NM_001375498.1:c.452-3374= | NM_001375498.1:c.452-3374T>C |
| MAP2 transcript variant 14 | NM_001375499.1:c.455-7109= | NM_001375499.1:c.455-7109T>C |
| MAP2 transcript variant 15 | NM_001375508.1:c.455-7109= | NM_001375508.1:c.455-7109T>C |
| MAP2 transcript variant 47 | NM_001375509.1:c.544+442= | NM_001375509.1:c.544+442T>C |
| MAP2 transcript variant 43 | NM_001375510.1:c.455-3374= | NM_001375510.1:c.455-3374T>C |
| MAP2 transcript variant 51 | NM_001375529.1:c.452-7109= | NM_001375529.1:c.452-7109T>C |
| MAP2 transcript variant 52 | NM_001375530.1:c.455-7112= | NM_001375530.1:c.455-7112T>C |
| MAP2 transcript variant 53 | NM_001375532.1:c.455-7112= | NM_001375532.1:c.455-7112T>C |
| MAP2 transcript variant 54 | NM_001375533.1:c.452-7109= | NM_001375533.1:c.452-7109T>C |
| MAP2 transcript variant 46 | NM_001375535.1:c.697+2320= | NM_001375535.1:c.697+2320T>C |
| MAP2 transcript variant 44 | NM_001375536.1:c.455-3374= | NM_001375536.1:c.455-3374T>C |
| MAP2 transcript variant 45 | NM_001375538.1:c.455-3374= | NM_001375538.1:c.455-3374T>C |
| MAP2 transcript variant 41 | NM_001375540.1:c.452-3374= | NM_001375540.1:c.452-3374T>C |
| MAP2 transcript variant 50 | NM_001375541.1:c.455-3749= | NM_001375541.1:c.455-3749T>C |
| MAP2 transcript variant 56 | NM_001375542.1:c.452-7112= | NM_001375542.1:c.452-7112T>C |
| MAP2 transcript variant 57 | NM_001375553.1:c.-17-3374= | NM_001375553.1:c.-17-3374T>C |
| MAP2 transcript variant 58 | NM_001375554.1:c.-17-3374= | NM_001375554.1:c.-17-3374T>C |
| MAP2 transcript variant 60 | NM_001375583.1:c.455-7109= | NM_001375583.1:c.455-7109T>C |
| MAP2 transcript variant 2 | NM_031845.2:c.455-7109= | NM_031845.2:c.455-7109T>C |
| MAP2 transcript variant 2 | NM_031845.3:c.455-7109= | NM_031845.3:c.455-7109T>C |
| MAP2 transcript variant 4 | NM_031847.2:c.455-7109= | NM_031847.2:c.455-7109T>C |
| MAP2 transcript variant 4 | NM_031847.3:c.455-7109= | NM_031847.3:c.455-7109T>C |
| MAP2 transcript variant X14 | XM_005246567.1:c.455-7109= | XM_005246567.1:c.455-7109T>C |
| MAP2 transcript variant X22 | XM_047444390.1:c.455-7109= | XM_047444390.1:c.455-7109T>C |
| MAP2 transcript variant X23 | XM_047444391.1:c.455-7109= | XM_047444391.1:c.455-7109T>C |
| MAP2 transcript variant X24 | XM_047444392.1:c.455-7109= | XM_047444392.1:c.455-7109T>C |
| MAP2 transcript variant X25 | XM_047444393.1:c.455-7112= | XM_047444393.1:c.455-7112T>C |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
2 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_EXAC | ss1686707708 | Apr 01, 2015 (144) |
| 2 | GNOMAD | ss2733289173 | Nov 08, 2017 (151) |
| 3 | ExAC | NC_000002.11 - 210557892 | Oct 11, 2018 (152) |
| 4 | gnomAD - Exomes | NC_000002.11 - 210557892 | Jul 13, 2019 (153) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs747169947
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.