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.
rs587780397
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:151553413-151553417 (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
- delATAAGinsCTC
- Variation Type
- Indel Insertion and Deletion
- Frequency
-
None
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- NEB : Frameshift Variant
- Publications
- 1 citation
- Genomic View
- See rs on genome
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").
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.
Sequence name | Change |
---|---|
GRCh38.p14 chr 2 | NC_000002.12:g.151553413_151553417delinsCTC |
GRCh37.p13 chr 2 | NC_000002.11:g.152409927_152409931delinsCTC |
NEB RefSeqGene (LRG_202) | NG_009382.2:g.186071_186075delinsGAG |
LOC126806373 genomic region | NG_082693.1:g.21_25delinsCTC |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
NEB transcript variant 4 |
NM_001271208.2:c.19712_19… NM_001271208.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform 4 | NP_001258137.2:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant 3 |
NM_004543.5:c.14609_14613… NM_004543.5:c.14609_14613delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform 3 | NP_004534.3:p.Ala4870fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant 2 |
NM_001164508.2:c.19712_19… NM_001164508.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform 2 | NP_001157980.2:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant 1 |
NM_001164507.2:c.19712_19… NM_001164507.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform 1 | NP_001157979.2:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X1 |
XM_005246594.3:c.19712_19… XM_005246594.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X1 | XP_005246651.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X2 |
XM_005246593.3:c.19712_19… XM_005246593.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X2 | XP_005246650.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X3 |
XM_005246592.3:c.19712_19… XM_005246592.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X3 | XP_005246649.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X4 |
XM_005246590.3:c.19712_19… XM_005246590.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X4 | XP_005246647.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X5 |
XM_005246591.3:c.19712_19… XM_005246591.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X5 | XP_005246648.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X6 |
XM_017004177.2:c.19712_19… XM_017004177.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X6 | XP_016859666.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X7 |
XM_005246596.3:c.19712_19… XM_005246596.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X7 | XP_005246653.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X8 |
XM_005246597.3:c.19712_19… XM_005246597.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X8 | XP_005246654.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X9 |
XM_005246598.3:c.19712_19… XM_005246598.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X9 | XP_005246655.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X10 |
XM_017004178.2:c.19712_19… XM_017004178.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X10 | XP_016859667.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X11 |
XM_047444477.1:c.19712_19… XM_047444477.1:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X11 | XP_047300433.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X12 |
XM_005246599.3:c.19712_19… XM_005246599.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X12 | XP_005246656.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X13 |
XM_047444478.1:c.19712_19… XM_047444478.1:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X13 | XP_047300434.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X14 |
XM_005246602.3:c.19712_19… XM_005246602.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X14 | XP_005246659.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X15 |
XM_005246601.3:c.19712_19… XM_005246601.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X15 | XP_005246658.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X16 |
XM_006712541.3:c.19712_19… XM_006712541.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X16 | XP_006712604.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X17 |
XM_006712542.3:c.19712_19… XM_006712542.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X17 | XP_006712605.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X18 |
XM_017004179.2:c.19712_19… XM_017004179.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X18 | XP_016859668.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X19 |
XM_005246606.3:c.19712_19… XM_005246606.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X19 | XP_005246663.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X20 |
XM_005246604.3:c.19712_19… XM_005246604.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X20 | XP_005246661.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X21 |
XM_017004180.2:c.19712_19… XM_017004180.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X21 | XP_016859669.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X22 |
XM_017004181.2:c.19712_19… XM_017004181.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X22 | XP_016859670.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X23 |
XM_005246608.3:c.19712_19… XM_005246608.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X23 | XP_005246665.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X24 |
XM_017004182.2:c.19712_19… XM_017004182.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X24 | XP_016859671.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X25 |
XM_005246610.3:c.19712_19… XM_005246610.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X25 | XP_005246667.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X26 |
XM_005246611.3:c.19712_19… XM_005246611.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X26 | XP_005246668.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X27 |
XM_047444479.1:c.19712_19… XM_047444479.1:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X27 | XP_047300435.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X28 |
XM_005246612.3:c.18983_18… XM_005246612.3:c.18983_18987delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X28 | XP_005246669.1:p.Ala6328fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X29 |
XM_005246613.3:c.18983_18… XM_005246613.3:c.18983_18987delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X29 | XP_005246670.1:p.Ala6328fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X30 |
XM_005246615.3:c.19712_19… XM_005246615.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X30 | XP_005246672.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X31 |
XM_017004184.2:c.19712_19… XM_017004184.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X31 | XP_016859673.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X32 |
XM_017004183.2:c.19712_19… XM_017004183.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X32 | XP_016859672.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X33 |
XM_011511225.3:c.19712_19… XM_011511225.3:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X33 | XP_011509527.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X34 |
XM_047444481.1:c.19712_19… XM_047444481.1:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X34 | XP_047300437.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X35 |
XM_047444482.1:c.19712_19… XM_047444482.1:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X35 | XP_047300438.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X36 |
XM_047444483.1:c.19712_19… XM_047444483.1:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X36 | XP_047300439.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X37 |
XM_047444484.1:c.19712_19… XM_047444484.1:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X37 | XP_047300440.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X38 |
XM_017004185.2:c.19712_19… XM_017004185.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X38 | XP_016859674.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X39 |
XM_047444485.1:c.19712_19… XM_047444485.1:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X39 | XP_047300441.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X40 |
XM_005246616.2:c.19712_19… XM_005246616.2:c.19712_19716delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X40 | XP_005246673.1:p.Ala6571fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X41 |
XM_011511226.3:c.17525_17… XM_011511226.3:c.17525_17529delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X41 | XP_011509528.1:p.Ala5842fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X42 |
XM_005246617.3:c.16796_16… XM_005246617.3:c.16796_16800delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X42 | XP_005246674.1:p.Ala5599fs | A (Ala) > G (Gly) | Frameshift Variant |
NEB transcript variant X43 |
XM_011511227.3:c.15338_15… XM_011511227.3:c.15338_15342delinsGAG |
A [GCTTA] > G [GGAG] | Coding Sequence Variant |
nebulin isoform X43 | XP_011509529.1:p.Ala5113fs | A (Ala) > G (Gly) | Frameshift Variant |
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.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000117719.5 | Nemaline myopathy 2 | Pathogenic |
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 | ATAAG= | delATAAGinsCTC |
---|---|---|
GRCh38.p14 chr 2 | NC_000002.12:g.151553413_151553417= | NC_000002.12:g.151553413_151553417delinsCTC |
GRCh37.p13 chr 2 | NC_000002.11:g.152409927_152409931= | NC_000002.11:g.152409927_152409931delinsCTC |
NEB RefSeqGene (LRG_202) | NG_009382.2:g.186071_186075= | NG_009382.2:g.186071_186075delinsGAG |
NEB transcript variant 3 | NM_004543.5:c.14609_14613= | NM_004543.5:c.14609_14613delinsGAG |
NEB transcript variant 3 | NM_004543.4:c.14609_14613= | NM_004543.4:c.14609_14613delinsGAG |
NEB transcript variant 4 | NM_001271208.2:c.19712_19716= | NM_001271208.2:c.19712_19716delinsGAG |
NEB transcript variant 4 | NM_001271208.1:c.19712_19716= | NM_001271208.1:c.19712_19716delinsGAG |
NEB transcript variant 2 | NM_001164508.2:c.19712_19716= | NM_001164508.2:c.19712_19716delinsGAG |
NEB transcript variant 2 | NM_001164508.1:c.19712_19716= | NM_001164508.1:c.19712_19716delinsGAG |
NEB transcript variant 1 | NM_001164507.2:c.19712_19716= | NM_001164507.2:c.19712_19716delinsGAG |
NEB transcript variant 1 | NM_001164507.1:c.19712_19716= | NM_001164507.1:c.19712_19716delinsGAG |
LOC126806373 genomic region | NG_082693.1:g.21_25= | NG_082693.1:g.21_25delinsCTC |
NEB transcript variant X1 | XM_005246594.3:c.19712_19716= | XM_005246594.3:c.19712_19716delinsGAG |
NEB transcript variant X4 | XM_005246594.2:c.19712_19716= | XM_005246594.2:c.19712_19716delinsGAG |
NEB transcript variant X4 | XM_005246594.1:c.19712_19716= | XM_005246594.1:c.19712_19716delinsGAG |
NEB transcript variant X2 | XM_005246593.3:c.19712_19716= | XM_005246593.3:c.19712_19716delinsGAG |
NEB transcript variant X3 | XM_005246593.2:c.19712_19716= | XM_005246593.2:c.19712_19716delinsGAG |
NEB transcript variant X3 | XM_005246593.1:c.19712_19716= | XM_005246593.1:c.19712_19716delinsGAG |
NEB transcript variant X3 | XM_005246592.3:c.19712_19716= | XM_005246592.3:c.19712_19716delinsGAG |
NEB transcript variant X5 | XM_005246592.2:c.19712_19716= | XM_005246592.2:c.19712_19716delinsGAG |
NEB transcript variant X5 | XM_005246592.1:c.19712_19716= | XM_005246592.1:c.19712_19716delinsGAG |
NEB transcript variant X5 | XM_005246591.3:c.19712_19716= | XM_005246591.3:c.19712_19716delinsGAG |
NEB transcript variant X2 | XM_005246591.2:c.19712_19716= | XM_005246591.2:c.19712_19716delinsGAG |
NEB transcript variant X2 | XM_005246591.1:c.19712_19716= | XM_005246591.1:c.19712_19716delinsGAG |
NEB transcript variant X4 | XM_005246590.3:c.19712_19716= | XM_005246590.3:c.19712_19716delinsGAG |
NEB transcript variant X1 | XM_005246590.2:c.19712_19716= | XM_005246590.2:c.19712_19716delinsGAG |
NEB transcript variant X1 | XM_005246590.1:c.19712_19716= | XM_005246590.1:c.19712_19716delinsGAG |
NEB transcript variant X9 | XM_005246598.3:c.19712_19716= | XM_005246598.3:c.19712_19716delinsGAG |
NEB transcript variant X10 | XM_005246598.2:c.19712_19716= | XM_005246598.2:c.19712_19716delinsGAG |
NEB transcript variant X10 | XM_005246598.1:c.19712_19716= | XM_005246598.1:c.19712_19716delinsGAG |
NEB transcript variant X8 | XM_005246597.3:c.19712_19716= | XM_005246597.3:c.19712_19716delinsGAG |
NEB transcript variant X9 | XM_005246597.2:c.19712_19716= | XM_005246597.2:c.19712_19716delinsGAG |
NEB transcript variant X9 | XM_005246597.1:c.19712_19716= | XM_005246597.1:c.19712_19716delinsGAG |
NEB transcript variant X7 | XM_005246596.3:c.19712_19716= | XM_005246596.3:c.19712_19716delinsGAG |
NEB transcript variant X7 | XM_005246596.2:c.19712_19716= | XM_005246596.2:c.19712_19716delinsGAG |
NEB transcript variant X8 | XM_005246596.1:c.19712_19716= | XM_005246596.1:c.19712_19716delinsGAG |
NEB transcript variant X12 | XM_005246599.3:c.19712_19716= | XM_005246599.3:c.19712_19716delinsGAG |
NEB transcript variant X11 | XM_005246599.2:c.19712_19716= | XM_005246599.2:c.19712_19716delinsGAG |
NEB transcript variant X11 | XM_005246599.1:c.19712_19716= | XM_005246599.1:c.19712_19716delinsGAG |
NEB transcript variant X14 | XM_005246602.3:c.19712_19716= | XM_005246602.3:c.19712_19716delinsGAG |
NEB transcript variant X13 | XM_005246602.2:c.19712_19716= | XM_005246602.2:c.19712_19716delinsGAG |
NEB transcript variant X14 | XM_005246602.1:c.19712_19716= | XM_005246602.1:c.19712_19716delinsGAG |
NEB transcript variant X15 | XM_005246601.3:c.19712_19716= | XM_005246601.3:c.19712_19716delinsGAG |
NEB transcript variant X12 | XM_005246601.2:c.19712_19716= | XM_005246601.2:c.19712_19716delinsGAG |
NEB transcript variant X13 | XM_005246601.1:c.19712_19716= | XM_005246601.1:c.19712_19716delinsGAG |
NEB transcript variant X17 | XM_006712542.3:c.19712_19716= | XM_006712542.3:c.19712_19716delinsGAG |
NEB transcript variant X20 | XM_006712542.2:c.19712_19716= | XM_006712542.2:c.19712_19716delinsGAG |
NEB transcript variant X18 | XM_006712542.1:c.19712_19716= | XM_006712542.1:c.19712_19716delinsGAG |
NEB transcript variant X16 | XM_006712541.3:c.19712_19716= | XM_006712541.3:c.19712_19716delinsGAG |
NEB transcript variant X17 | XM_006712541.2:c.19712_19716= | XM_006712541.2:c.19712_19716delinsGAG |
NEB transcript variant X19 | XM_006712541.1:c.19712_19716= | XM_006712541.1:c.19712_19716delinsGAG |
NEB transcript variant X19 | XM_005246606.3:c.19712_19716= | XM_005246606.3:c.19712_19716delinsGAG |
NEB transcript variant X18 | XM_005246606.2:c.19712_19716= | XM_005246606.2:c.19712_19716delinsGAG |
NEB transcript variant X17 | XM_005246606.1:c.19712_19716= | XM_005246606.1:c.19712_19716delinsGAG |
NEB transcript variant X20 | XM_005246604.3:c.19712_19716= | XM_005246604.3:c.19712_19716delinsGAG |
NEB transcript variant X15 | XM_005246604.2:c.19712_19716= | XM_005246604.2:c.19712_19716delinsGAG |
NEB transcript variant X15 | XM_005246604.1:c.19712_19716= | XM_005246604.1:c.19712_19716delinsGAG |
NEB transcript variant X23 | XM_005246608.3:c.19712_19716= | XM_005246608.3:c.19712_19716delinsGAG |
NEB transcript variant X22 | XM_005246608.2:c.19712_19716= | XM_005246608.2:c.19712_19716delinsGAG |
NEB transcript variant X20 | XM_005246608.1:c.19712_19716= | XM_005246608.1:c.19712_19716delinsGAG |
NEB transcript variant X26 | XM_005246611.3:c.19712_19716= | XM_005246611.3:c.19712_19716delinsGAG |
NEB transcript variant X25 | XM_005246611.2:c.19712_19716= | XM_005246611.2:c.19712_19716delinsGAG |
NEB transcript variant X22 | XM_005246611.1:c.19712_19716= | XM_005246611.1:c.19712_19716delinsGAG |
NEB transcript variant X25 | XM_005246610.3:c.19712_19716= | XM_005246610.3:c.19712_19716delinsGAG |
NEB transcript variant X24 | XM_005246610.2:c.19712_19716= | XM_005246610.2:c.19712_19716delinsGAG |
NEB transcript variant X21 | XM_005246610.1:c.19712_19716= | XM_005246610.1:c.19712_19716delinsGAG |
NEB transcript variant X29 | XM_005246613.3:c.18983_18987= | XM_005246613.3:c.18983_18987delinsGAG |
NEB transcript variant X27 | XM_005246613.2:c.18983_18987= | XM_005246613.2:c.18983_18987delinsGAG |
NEB transcript variant X24 | XM_005246613.1:c.18983_18987= | XM_005246613.1:c.18983_18987delinsGAG |
NEB transcript variant X28 | XM_005246612.3:c.18983_18987= | XM_005246612.3:c.18983_18987delinsGAG |
NEB transcript variant X26 | XM_005246612.2:c.18983_18987= | XM_005246612.2:c.18983_18987delinsGAG |
NEB transcript variant X23 | XM_005246612.1:c.18983_18987= | XM_005246612.1:c.18983_18987delinsGAG |
NEB transcript variant X33 | XM_011511225.3:c.19712_19716= | XM_011511225.3:c.19712_19716delinsGAG |
NEB transcript variant X29 | XM_011511225.2:c.19712_19716= | XM_011511225.2:c.19712_19716delinsGAG |
NEB transcript variant X25 | XM_011511225.1:c.19712_19716= | XM_011511225.1:c.19712_19716delinsGAG |
NEB transcript variant X30 | XM_005246615.3:c.19712_19716= | XM_005246615.3:c.19712_19716delinsGAG |
NEB transcript variant X31 | XM_005246615.2:c.19712_19716= | XM_005246615.2:c.19712_19716delinsGAG |
NEB transcript variant X26 | XM_005246615.1:c.19712_19716= | XM_005246615.1:c.19712_19716delinsGAG |
NEB transcript variant X41 | XM_011511226.3:c.17525_17529= | XM_011511226.3:c.17525_17529delinsGAG |
NEB transcript variant X34 | XM_011511226.2:c.17525_17529= | XM_011511226.2:c.17525_17529delinsGAG |
NEB transcript variant X28 | XM_011511226.1:c.17525_17529= | XM_011511226.1:c.17525_17529delinsGAG |
NEB transcript variant X42 | XM_005246617.3:c.16796_16800= | XM_005246617.3:c.16796_16800delinsGAG |
NEB transcript variant X35 | XM_005246617.2:c.16796_16800= | XM_005246617.2:c.16796_16800delinsGAG |
NEB transcript variant X29 | XM_005246617.1:c.16796_16800= | XM_005246617.1:c.16796_16800delinsGAG |
NEB transcript variant X43 | XM_011511227.3:c.15338_15342= | XM_011511227.3:c.15338_15342delinsGAG |
NEB transcript variant X36 | XM_011511227.2:c.15338_15342= | XM_011511227.2:c.15338_15342delinsGAG |
NEB transcript variant X30 | XM_011511227.1:c.15338_15342= | XM_011511227.1:c.15338_15342delinsGAG |
NEB transcript variant X6 | XM_017004177.2:c.19712_19716= | XM_017004177.2:c.19712_19716delinsGAG |
NEB transcript variant X6 | XM_017004177.1:c.19712_19716= | XM_017004177.1:c.19712_19716delinsGAG |
NEB transcript variant X10 | XM_017004178.2:c.19712_19716= | XM_017004178.2:c.19712_19716delinsGAG |
NEB transcript variant X8 | XM_017004178.1:c.19712_19716= | XM_017004178.1:c.19712_19716delinsGAG |
NEB transcript variant X21 | XM_017004180.2:c.19712_19716= | XM_017004180.2:c.19712_19716delinsGAG |
NEB transcript variant X19 | XM_017004180.1:c.19712_19716= | XM_017004180.1:c.19712_19716delinsGAG |
NEB transcript variant X18 | XM_017004179.2:c.19712_19716= | XM_017004179.2:c.19712_19716delinsGAG |
NEB transcript variant X16 | XM_017004179.1:c.19712_19716= | XM_017004179.1:c.19712_19716delinsGAG |
NEB transcript variant X22 | XM_017004181.2:c.19712_19716= | XM_017004181.2:c.19712_19716delinsGAG |
NEB transcript variant X21 | XM_017004181.1:c.19712_19716= | XM_017004181.1:c.19712_19716delinsGAG |
NEB transcript variant X24 | XM_017004182.2:c.19712_19716= | XM_017004182.2:c.19712_19716delinsGAG |
NEB transcript variant X23 | XM_017004182.1:c.19712_19716= | XM_017004182.1:c.19712_19716delinsGAG |
NEB transcript variant X31 | XM_017004184.2:c.19712_19716= | XM_017004184.2:c.19712_19716delinsGAG |
NEB transcript variant X30 | XM_017004184.1:c.19712_19716= | XM_017004184.1:c.19712_19716delinsGAG |
NEB transcript variant X32 | XM_017004183.2:c.19712_19716= | XM_017004183.2:c.19712_19716delinsGAG |
NEB transcript variant X28 | XM_017004183.1:c.19712_19716= | XM_017004183.1:c.19712_19716delinsGAG |
NEB transcript variant X38 | XM_017004185.2:c.19712_19716= | XM_017004185.2:c.19712_19716delinsGAG |
NEB transcript variant X32 | XM_017004185.1:c.19712_19716= | XM_017004185.1:c.19712_19716delinsGAG |
NEB transcript variant X40 | XM_005246616.2:c.19712_19716= | XM_005246616.2:c.19712_19716delinsGAG |
NEB transcript variant X33 | XM_005246616.1:c.19712_19716= | XM_005246616.1:c.19712_19716delinsGAG |
NEB transcript variant X11 | XM_047444477.1:c.19712_19716= | XM_047444477.1:c.19712_19716delinsGAG |
NEB transcript variant X13 | XM_047444478.1:c.19712_19716= | XM_047444478.1:c.19712_19716delinsGAG |
NEB transcript variant X27 | XM_047444479.1:c.19712_19716= | XM_047444479.1:c.19712_19716delinsGAG |
NEB transcript variant X35 | XM_047444482.1:c.19712_19716= | XM_047444482.1:c.19712_19716delinsGAG |
NEB transcript variant X34 | XM_047444481.1:c.19712_19716= | XM_047444481.1:c.19712_19716delinsGAG |
NEB transcript variant X36 | XM_047444483.1:c.19712_19716= | XM_047444483.1:c.19712_19716delinsGAG |
NEB transcript variant X37 | XM_047444484.1:c.19712_19716= | XM_047444484.1:c.19712_19716delinsGAG |
NEB transcript variant X39 | XM_047444485.1:c.19712_19716= | XM_047444485.1:c.19712_19716delinsGAG |
nebulin isoform 3 | NP_004534.3:p.Ala4870_Tyr4871= | NP_004534.3:p.Ala4870fs |
nebulin isoform 4 | NP_001258137.2:p.Ala6571_Tyr6572= | NP_001258137.2:p.Ala6571fs |
nebulin isoform 2 | NP_001157980.2:p.Ala6571_Tyr6572= | NP_001157980.2:p.Ala6571fs |
nebulin isoform 1 | NP_001157979.2:p.Ala6571_Tyr6572= | NP_001157979.2:p.Ala6571fs |
nebulin isoform X1 | XP_005246651.1:p.Ala6571_Tyr6572= | XP_005246651.1:p.Ala6571fs |
nebulin isoform X2 | XP_005246650.1:p.Ala6571_Tyr6572= | XP_005246650.1:p.Ala6571fs |
nebulin isoform X3 | XP_005246649.1:p.Ala6571_Tyr6572= | XP_005246649.1:p.Ala6571fs |
nebulin isoform X5 | XP_005246648.1:p.Ala6571_Tyr6572= | XP_005246648.1:p.Ala6571fs |
nebulin isoform X4 | XP_005246647.1:p.Ala6571_Tyr6572= | XP_005246647.1:p.Ala6571fs |
nebulin isoform X9 | XP_005246655.1:p.Ala6571_Tyr6572= | XP_005246655.1:p.Ala6571fs |
nebulin isoform X8 | XP_005246654.1:p.Ala6571_Tyr6572= | XP_005246654.1:p.Ala6571fs |
nebulin isoform X7 | XP_005246653.1:p.Ala6571_Tyr6572= | XP_005246653.1:p.Ala6571fs |
nebulin isoform X12 | XP_005246656.1:p.Ala6571_Tyr6572= | XP_005246656.1:p.Ala6571fs |
nebulin isoform X14 | XP_005246659.1:p.Ala6571_Tyr6572= | XP_005246659.1:p.Ala6571fs |
nebulin isoform X15 | XP_005246658.1:p.Ala6571_Tyr6572= | XP_005246658.1:p.Ala6571fs |
nebulin isoform X17 | XP_006712605.1:p.Ala6571_Tyr6572= | XP_006712605.1:p.Ala6571fs |
nebulin isoform X16 | XP_006712604.1:p.Ala6571_Tyr6572= | XP_006712604.1:p.Ala6571fs |
nebulin isoform X19 | XP_005246663.1:p.Ala6571_Tyr6572= | XP_005246663.1:p.Ala6571fs |
nebulin isoform X20 | XP_005246661.1:p.Ala6571_Tyr6572= | XP_005246661.1:p.Ala6571fs |
nebulin isoform X23 | XP_005246665.1:p.Ala6571_Tyr6572= | XP_005246665.1:p.Ala6571fs |
nebulin isoform X26 | XP_005246668.1:p.Ala6571_Tyr6572= | XP_005246668.1:p.Ala6571fs |
nebulin isoform X25 | XP_005246667.1:p.Ala6571_Tyr6572= | XP_005246667.1:p.Ala6571fs |
nebulin isoform X29 | XP_005246670.1:p.Ala6328_Tyr6329= | XP_005246670.1:p.Ala6328fs |
nebulin isoform X28 | XP_005246669.1:p.Ala6328_Tyr6329= | XP_005246669.1:p.Ala6328fs |
nebulin isoform X33 | XP_011509527.1:p.Ala6571_Tyr6572= | XP_011509527.1:p.Ala6571fs |
nebulin isoform X30 | XP_005246672.1:p.Ala6571_Tyr6572= | XP_005246672.1:p.Ala6571fs |
nebulin isoform X41 | XP_011509528.1:p.Ala5842_Tyr5843= | XP_011509528.1:p.Ala5842fs |
nebulin isoform X42 | XP_005246674.1:p.Ala5599_Tyr5600= | XP_005246674.1:p.Ala5599fs |
nebulin isoform X43 | XP_011509529.1:p.Ala5113_Tyr5114= | XP_011509529.1:p.Ala5113fs |
nebulin isoform X6 | XP_016859666.1:p.Ala6571_Tyr6572= | XP_016859666.1:p.Ala6571fs |
nebulin isoform X10 | XP_016859667.1:p.Ala6571_Tyr6572= | XP_016859667.1:p.Ala6571fs |
nebulin isoform X21 | XP_016859669.1:p.Ala6571_Tyr6572= | XP_016859669.1:p.Ala6571fs |
nebulin isoform X18 | XP_016859668.1:p.Ala6571_Tyr6572= | XP_016859668.1:p.Ala6571fs |
nebulin isoform X22 | XP_016859670.1:p.Ala6571_Tyr6572= | XP_016859670.1:p.Ala6571fs |
nebulin isoform X24 | XP_016859671.1:p.Ala6571_Tyr6572= | XP_016859671.1:p.Ala6571fs |
nebulin isoform X31 | XP_016859673.1:p.Ala6571_Tyr6572= | XP_016859673.1:p.Ala6571fs |
nebulin isoform X32 | XP_016859672.1:p.Ala6571_Tyr6572= | XP_016859672.1:p.Ala6571fs |
nebulin isoform X38 | XP_016859674.1:p.Ala6571_Tyr6572= | XP_016859674.1:p.Ala6571fs |
nebulin isoform X40 | XP_005246673.1:p.Ala6571_Tyr6572= | XP_005246673.1:p.Ala6571fs |
nebulin isoform X11 | XP_047300433.1:p.Ala6571_Tyr6572= | XP_047300433.1:p.Ala6571fs |
nebulin isoform X13 | XP_047300434.1:p.Ala6571_Tyr6572= | XP_047300434.1:p.Ala6571fs |
nebulin isoform X27 | XP_047300435.1:p.Ala6571_Tyr6572= | XP_047300435.1:p.Ala6571fs |
nebulin isoform X35 | XP_047300438.1:p.Ala6571_Tyr6572= | XP_047300438.1:p.Ala6571fs |
nebulin isoform X34 | XP_047300437.1:p.Ala6571_Tyr6572= | XP_047300437.1:p.Ala6571fs |
nebulin isoform X36 | XP_047300439.1:p.Ala6571_Tyr6572= | XP_047300439.1:p.Ala6571fs |
nebulin isoform X37 | XP_047300440.1:p.Ala6571_Tyr6572= | XP_047300440.1:p.Ala6571fs |
nebulin isoform X39 | XP_047300441.1:p.Ala6571_Tyr6572= | XP_047300441.1:p.Ala6571fs |
nebulin isoform 1 | NP_001157979.1:p.Ala6571_Tyr6572= | NP_001157979.1:p.Ala6571fs |
nebulin isoform 2 | NP_001157980.1:p.Ala6571_Tyr6572= | NP_001157980.1:p.Ala6571fs |
nebulin isoform 4 | NP_001258137.1:p.Ala6571_Tyr6572= | NP_001258137.1:p.Ala6571fs |
nebulin isoform 3 | NP_004534.2:p.Ala4870_Tyr4871= | NP_004534.2:p.Ala4870fs |
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#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | CLINVAR | ss1457614721 | Nov 23, 2014 (142) |
2 | ClinVar | RCV000117719.5 | Oct 17, 2022 (156) |
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).
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
18414213 | ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. | Richards CS et al. | 2008 | Genetics in medicine |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
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.