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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs45517148

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:2060790 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000025 (3/120486, ExAC)
A=0.00004 (1/28258, 14KJPN)
A=0.00000 (0/14418, ALFA) (+ 3 more)
C=0.00000 (0/14418, ALFA)
A=0.0000 (0/3854, ALSPAC)
A=0.0003 (1/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
TSC2 : Stop Gained
Publications
2 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 14418 G=1.00000 A=0.00000, C=0.00000
European Sub 9822 G=1.0000 A=0.0000, C=0.0000
African Sub 2946 G=1.0000 A=0.0000, C=0.0000
African Others Sub 114 G=1.000 A=0.000, C=0.000
African American Sub 2832 G=1.0000 A=0.0000, C=0.0000
Asian Sub 112 G=1.000 A=0.000, C=0.000
East Asian Sub 86 G=1.00 A=0.00, C=0.00
Other Asian Sub 26 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00
Other Sub 684 G=1.000 A=0.000, C=0.000


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
ExAC Global Study-wide 120486 G=0.999975 A=0.000025
ExAC Europe Sub 72608 G=0.99999 A=0.00001
ExAC Asian Sub 25132 G=0.99996 A=0.00004
ExAC American Sub 11528 G=0.99991 A=0.00009
ExAC African Sub 10322 G=1.00000 A=0.00000
ExAC Other Sub 896 G=1.000 A=0.000
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
Allele Frequency Aggregator Total Global 14418 G=1.00000 A=0.00000, C=0.00000
Allele Frequency Aggregator European Sub 9822 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator African Sub 2946 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Other Sub 684 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, C=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=1.0000 A=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9997 A=0.0003
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 16 NC_000016.10:g.2060790G>A
GRCh38.p14 chr 16 NC_000016.10:g.2060790G>C
GRCh38.p14 chr 16 NC_000016.10:g.2060790G>T
GRCh37.p13 chr 16 NC_000016.9:g.2110791G>A
GRCh37.p13 chr 16 NC_000016.9:g.2110791G>C
GRCh37.p13 chr 16 NC_000016.9:g.2110791G>T
TSC2 RefSeqGene (LRG_487) NG_005895.1:g.16485G>A
TSC2 RefSeqGene (LRG_487) NG_005895.1:g.16485G>C
TSC2 RefSeqGene (LRG_487) NG_005895.1:g.16485G>T
Gene: TSC2, TSC complex subunit 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TSC2 transcript variant 1 NM_000548.5:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 1 NP_000539.2:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 1 NM_000548.5:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 1 NP_000539.2:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 1 NM_000548.5:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 1 NP_000539.2:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 12 NM_001370405.1:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 12 NP_001357334.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 12 NM_001370405.1:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 12 NP_001357334.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 12 NM_001370405.1:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 12 NP_001357334.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 11 NM_001370404.1:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 11 NP_001357333.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 11 NM_001370404.1:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 11 NP_001357333.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 11 NM_001370404.1:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 11 NP_001357333.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 10 NM_001363528.2:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 10 NP_001350457.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 10 NM_001363528.2:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 10 NP_001350457.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 10 NM_001363528.2:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 10 NP_001350457.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 5 NM_001114382.3:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 5 NP_001107854.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 5 NM_001114382.3:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 5 NP_001107854.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 5 NM_001114382.3:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 5 NP_001107854.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 2 NM_021055.3:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 2 NP_066399.2:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 2 NM_021055.3:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 2 NP_066399.2:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 2 NM_021055.3:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 2 NP_066399.2:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 8 NM_001318831.2:c.496G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 8 NP_001305760.1:p.Glu166Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 8 NM_001318831.2:c.496G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 8 NP_001305760.1:p.Glu166Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 8 NM_001318831.2:c.496G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 8 NP_001305760.1:p.Glu166Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 4 NM_001077183.3:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 4 NP_001070651.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 4 NM_001077183.3:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 4 NP_001070651.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 4 NM_001077183.3:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 4 NP_001070651.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 6 NM_001318827.2:c.985G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 6 NP_001305756.1:p.Glu329Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 6 NM_001318827.2:c.985G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 6 NP_001305756.1:p.Glu329Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 6 NM_001318827.2:c.985G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 6 NP_001305756.1:p.Glu329Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 9 NM_001318832.2:c.1129G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 9 NP_001305761.1:p.Glu377Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 9 NM_001318832.2:c.1129G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 9 NP_001305761.1:p.Glu377Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 9 NM_001318832.2:c.1129G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 9 NP_001305761.1:p.Glu377Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant 7 NM_001318829.2:c.949G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform 7 NP_001305758.1:p.Glu317Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant 7 NM_001318829.2:c.949G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform 7 NP_001305758.1:p.Glu317Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant 7 NM_001318829.2:c.949G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform 7 NP_001305758.1:p.Glu317Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant X1 XM_011522636.3:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform X1 XP_011520938.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant X1 XM_011522636.3:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform X1 XP_011520938.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant X1 XM_011522636.3:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform X1 XP_011520938.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant X2 XM_011522637.3:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform X2 XP_011520939.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant X2 XM_011522637.3:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform X2 XP_011520939.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant X2 XM_011522637.3:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform X2 XP_011520939.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant X3 XM_017023615.2:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform X3 XP_016879104.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant X3 XM_017023615.2:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform X3 XP_016879104.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant X3 XM_017023615.2:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform X3 XP_016879104.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant X3 XM_011522638.3:c.985G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform X3 XP_011520940.3:p.Glu329Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant X3 XM_011522638.3:c.985G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform X3 XP_011520940.3:p.Glu329Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant X3 XM_011522638.3:c.985G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform X3 XP_011520940.3:p.Glu329Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant X5 XM_047434555.1:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform X5 XP_047290511.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant X5 XM_047434555.1:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform X5 XP_047290511.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant X5 XM_047434555.1:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform X5 XP_047290511.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant X4 XM_011522639.3:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform X4 XP_011520941.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant X4 XM_011522639.3:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform X4 XP_011520941.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant X4 XM_011522639.3:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform X4 XP_011520941.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant X7 XM_011522640.3:c.1096G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform X7 XP_011520942.1:p.Glu366Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant X7 XM_011522640.3:c.1096G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform X7 XP_011520942.1:p.Glu366Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant X7 XM_011522640.3:c.1096G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform X7 XP_011520942.1:p.Glu366Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant X8 XM_047434556.1:c.985G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform X8 XP_047290512.1:p.Glu329Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant X8 XM_047434556.1:c.985G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform X8 XP_047290512.1:p.Glu329Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant X8 XM_047434556.1:c.985G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform X8 XP_047290512.1:p.Glu329Ter E (Glu) > * (Ter) Stop Gained
TSC2 transcript variant X9 XM_047434557.1:c.985G>A E [GAA] > K [AAA] Coding Sequence Variant
tuberin isoform X9 XP_047290513.1:p.Glu329Lys E (Glu) > K (Lys) Missense Variant
TSC2 transcript variant X9 XM_047434557.1:c.985G>C E [GAA] > Q [CAA] Coding Sequence Variant
tuberin isoform X9 XP_047290513.1:p.Glu329Gln E (Glu) > Q (Gln) Missense Variant
TSC2 transcript variant X9 XM_047434557.1:c.985G>T E [GAA] > * [TAA] Coding Sequence Variant
tuberin isoform X9 XP_047290513.1:p.Glu329Ter E (Glu) > * (Ter) Stop Gained
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.

Allele: A (allele ID: 203105 )
ClinVar Accession Disease Names Clinical Significance
RCV000230966.14 Tuberous sclerosis 2 Conflicting-Interpretations-Of-Pathogenicity
RCV000568549.2 Hereditary cancer-predisposing syndrome Uncertain-Significance
RCV001118951.3 Tuberous sclerosis syndrome Uncertain-Significance
RCV001721235.2 not provided Likely-Benign
Allele: C (allele ID: 529888 )
ClinVar Accession Disease Names Clinical Significance
RCV000644146.4 Tuberous sclerosis 2 Uncertain-Significance
Allele: T (allele ID: 27439 )
ClinVar Accession Disease Names Clinical Significance
RCV000042986.3 Tuberous sclerosis syndrome Not-Provided
RCV000055263.6 Lymphangiomyomatosis Pathogenic
RCV000497801.1 not provided Pathogenic
RCV001194675.2 Tuberous sclerosis 2 Pathogenic
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 G= A C T
GRCh38.p14 chr 16 NC_000016.10:g.2060790= NC_000016.10:g.2060790G>A NC_000016.10:g.2060790G>C NC_000016.10:g.2060790G>T
GRCh37.p13 chr 16 NC_000016.9:g.2110791= NC_000016.9:g.2110791G>A NC_000016.9:g.2110791G>C NC_000016.9:g.2110791G>T
TSC2 RefSeqGene (LRG_487) NG_005895.1:g.16485= NG_005895.1:g.16485G>A NG_005895.1:g.16485G>C NG_005895.1:g.16485G>T
TSC2 transcript variant 1 NM_000548.5:c.1096= NM_000548.5:c.1096G>A NM_000548.5:c.1096G>C NM_000548.5:c.1096G>T
TSC2 transcript variant 1 NM_000548.4:c.1096= NM_000548.4:c.1096G>A NM_000548.4:c.1096G>C NM_000548.4:c.1096G>T
TSC2 transcript variant 1 NM_000548.3:c.1096= NM_000548.3:c.1096G>A NM_000548.3:c.1096G>C NM_000548.3:c.1096G>T
TSC2 transcript variant 5 NM_001114382.3:c.1096= NM_001114382.3:c.1096G>A NM_001114382.3:c.1096G>C NM_001114382.3:c.1096G>T
TSC2 transcript variant 5 NM_001114382.2:c.1096= NM_001114382.2:c.1096G>A NM_001114382.2:c.1096G>C NM_001114382.2:c.1096G>T
TSC2 transcript variant 5 NM_001114382.1:c.1096= NM_001114382.1:c.1096G>A NM_001114382.1:c.1096G>C NM_001114382.1:c.1096G>T
TSC2 transcript variant 2 NM_021055.3:c.1096= NM_021055.3:c.1096G>A NM_021055.3:c.1096G>C NM_021055.3:c.1096G>T
TSC2 transcript variant 2 NM_021055.2:c.1096= NM_021055.2:c.1096G>A NM_021055.2:c.1096G>C NM_021055.2:c.1096G>T
TSC2 transcript variant 2 NM_021055.1:c.1096= NM_021055.1:c.1096G>A NM_021055.1:c.1096G>C NM_021055.1:c.1096G>T
TSC2 transcript variant 4 NM_001077183.3:c.1096= NM_001077183.3:c.1096G>A NM_001077183.3:c.1096G>C NM_001077183.3:c.1096G>T
TSC2 transcript variant 4 NM_001077183.2:c.1096= NM_001077183.2:c.1096G>A NM_001077183.2:c.1096G>C NM_001077183.2:c.1096G>T
TSC2 transcript variant 4 NM_001077183.1:c.1096= NM_001077183.1:c.1096G>A NM_001077183.1:c.1096G>C NM_001077183.1:c.1096G>T
TSC2 transcript variant 10 NM_001363528.2:c.1096= NM_001363528.2:c.1096G>A NM_001363528.2:c.1096G>C NM_001363528.2:c.1096G>T
TSC2 transcript variant 10 NM_001363528.1:c.1096= NM_001363528.1:c.1096G>A NM_001363528.1:c.1096G>C NM_001363528.1:c.1096G>T
TSC2 transcript variant 9 NM_001318832.2:c.1129= NM_001318832.2:c.1129G>A NM_001318832.2:c.1129G>C NM_001318832.2:c.1129G>T
TSC2 transcript variant 9 NM_001318832.1:c.1129= NM_001318832.1:c.1129G>A NM_001318832.1:c.1129G>C NM_001318832.1:c.1129G>T
TSC2 transcript variant 6 NM_001318827.2:c.985= NM_001318827.2:c.985G>A NM_001318827.2:c.985G>C NM_001318827.2:c.985G>T
TSC2 transcript variant 6 NM_001318827.1:c.985= NM_001318827.1:c.985G>A NM_001318827.1:c.985G>C NM_001318827.1:c.985G>T
TSC2 transcript variant 7 NM_001318829.2:c.949= NM_001318829.2:c.949G>A NM_001318829.2:c.949G>C NM_001318829.2:c.949G>T
TSC2 transcript variant 7 NM_001318829.1:c.949= NM_001318829.1:c.949G>A NM_001318829.1:c.949G>C NM_001318829.1:c.949G>T
TSC2 transcript variant 8 NM_001318831.2:c.496= NM_001318831.2:c.496G>A NM_001318831.2:c.496G>C NM_001318831.2:c.496G>T
TSC2 transcript variant 8 NM_001318831.1:c.496= NM_001318831.1:c.496G>A NM_001318831.1:c.496G>C NM_001318831.1:c.496G>T
TSC2 transcript variant 26 NM_001406680.1:c.496= NM_001406680.1:c.496G>A NM_001406680.1:c.496G>C NM_001406680.1:c.496G>T
TSC2 transcript variant 39 NM_001406693.1:c.-336= NM_001406693.1:c.-336G>A NM_001406693.1:c.-336G>C NM_001406693.1:c.-336G>T
TSC2 transcript variant 29 NM_001406683.1:c.496= NM_001406683.1:c.496G>A NM_001406683.1:c.496G>C NM_001406683.1:c.496G>T
TSC2 transcript variant 46 NR_176226.1:n.1206= NR_176226.1:n.1206G>A NR_176226.1:n.1206G>C NR_176226.1:n.1206G>T
TSC2 transcript variant 47 NR_176227.1:n.1206= NR_176227.1:n.1206G>A NR_176227.1:n.1206G>C NR_176227.1:n.1206G>T
TSC2 transcript variant 35 NM_001406689.1:c.-336= NM_001406689.1:c.-336G>A NM_001406689.1:c.-336G>C NM_001406689.1:c.-336G>T
TSC2 transcript variant 33 NM_001406687.1:c.496= NM_001406687.1:c.496G>A NM_001406687.1:c.496G>C NM_001406687.1:c.496G>T
TSC2 transcript variant 13 NM_001406663.1:c.1096= NM_001406663.1:c.1096G>A NM_001406663.1:c.1096G>C NM_001406663.1:c.1096G>T
TSC2 transcript variant 36 NM_001406690.1:c.-336= NM_001406690.1:c.-336G>A NM_001406690.1:c.-336G>C NM_001406690.1:c.-336G>T
TSC2 transcript variant 37 NM_001406691.1:c.-336= NM_001406691.1:c.-336G>A NM_001406691.1:c.-336G>C NM_001406691.1:c.-336G>T
TSC2 transcript variant 14 NM_001406664.1:c.1096= NM_001406664.1:c.1096G>A NM_001406664.1:c.1096G>C NM_001406664.1:c.1096G>T
TSC2 transcript variant 15 NM_001406665.1:c.1096= NM_001406665.1:c.1096G>A NM_001406665.1:c.1096G>C NM_001406665.1:c.1096G>T
TSC2 transcript variant 16 NM_001406667.1:c.1186= NM_001406667.1:c.1186G>A NM_001406667.1:c.1186G>C NM_001406667.1:c.1186G>T
TSC2 transcript variant 38 NM_001406692.1:c.-336= NM_001406692.1:c.-336G>A NM_001406692.1:c.-336G>C NM_001406692.1:c.-336G>T
TSC2 transcript variant 17 NM_001406668.1:c.1186= NM_001406668.1:c.1186G>A NM_001406668.1:c.1186G>C NM_001406668.1:c.1186G>T
TSC2 transcript variant 43 NM_001406697.1:c.-336= NM_001406697.1:c.-336G>A NM_001406697.1:c.-336G>C NM_001406697.1:c.-336G>T
TSC2 transcript variant 42 NM_001406696.1:c.-336= NM_001406696.1:c.-336G>A NM_001406696.1:c.-336G>C NM_001406696.1:c.-336G>T
TSC2 transcript variant 11 NM_001370404.1:c.1096= NM_001370404.1:c.1096G>A NM_001370404.1:c.1096G>C NM_001370404.1:c.1096G>T
TSC2 transcript variant 12 NM_001370405.1:c.1096= NM_001370405.1:c.1096G>A NM_001370405.1:c.1096G>C NM_001370405.1:c.1096G>T
TSC2 transcript variant 45 NR_176225.1:n.1206= NR_176225.1:n.1206G>A NR_176225.1:n.1206G>C NR_176225.1:n.1206G>T
TSC2 transcript variant 48 NR_176228.1:n.1206= NR_176228.1:n.1206G>A NR_176228.1:n.1206G>C NR_176228.1:n.1206G>T
TSC2 transcript variant 18 NM_001406670.1:c.985= NM_001406670.1:c.985G>A NM_001406670.1:c.985G>C NM_001406670.1:c.985G>T
TSC2 transcript variant 44 NM_001406698.1:c.-512= NM_001406698.1:c.-512G>A NM_001406698.1:c.-512G>C NM_001406698.1:c.-512G>T
TSC2 transcript variant 19 NM_001406671.1:c.1084= NM_001406671.1:c.1084G>A NM_001406671.1:c.1084G>C NM_001406671.1:c.1084G>T
TSC2 transcript variant 20 NM_001406673.1:c.1084= NM_001406673.1:c.1084G>A NM_001406673.1:c.1084G>C NM_001406673.1:c.1084G>T
TSC2 transcript variant 27 NM_001406681.1:c.634= NM_001406681.1:c.634G>A NM_001406681.1:c.634G>C NM_001406681.1:c.634G>T
TSC2 transcript variant 40 NM_001406694.1:c.-217= NM_001406694.1:c.-217G>A NM_001406694.1:c.-217G>C NM_001406694.1:c.-217G>T
TSC2 transcript variant 41 NM_001406695.1:c.-217= NM_001406695.1:c.-217G>A NM_001406695.1:c.-217G>C NM_001406695.1:c.-217G>T
TSC2 transcript variant 49 NR_176229.1:n.1206= NR_176229.1:n.1206G>A NR_176229.1:n.1206G>C NR_176229.1:n.1206G>T
TSC2 transcript variant 21 NM_001406675.1:c.949= NM_001406675.1:c.949G>A NM_001406675.1:c.949G>C NM_001406675.1:c.949G>T
TSC2 transcript variant 22 NM_001406676.1:c.949= NM_001406676.1:c.949G>A NM_001406676.1:c.949G>C NM_001406676.1:c.949G>T
TSC2 transcript variant 23 NM_001406677.1:c.1039= NM_001406677.1:c.1039G>A NM_001406677.1:c.1039G>C NM_001406677.1:c.1039G>T
TSC2 transcript variant 24 NM_001406678.1:c.985= NM_001406678.1:c.985G>A NM_001406678.1:c.985G>C NM_001406678.1:c.985G>T
TSC2 transcript variant 25 NM_001406679.1:c.949= NM_001406679.1:c.949G>A NM_001406679.1:c.949G>C NM_001406679.1:c.949G>T
TSC2 transcript variant 28 NM_001406682.1:c.496= NM_001406682.1:c.496G>A NM_001406682.1:c.496G>C NM_001406682.1:c.496G>T
TSC2 transcript variant 30 NM_001406684.1:c.496= NM_001406684.1:c.496G>A NM_001406684.1:c.496G>C NM_001406684.1:c.496G>T
TSC2 transcript variant 31 NM_001406685.1:c.496= NM_001406685.1:c.496G>A NM_001406685.1:c.496G>C NM_001406685.1:c.496G>T
TSC2 transcript variant 34 NM_001406688.1:c.496= NM_001406688.1:c.496G>A NM_001406688.1:c.496G>C NM_001406688.1:c.496G>T
TSC2 transcript variant 32 NM_001406686.1:c.496= NM_001406686.1:c.496G>A NM_001406686.1:c.496G>C NM_001406686.1:c.496G>T
TSC2 transcript variant X1 XM_011522636.3:c.1096= XM_011522636.3:c.1096G>A XM_011522636.3:c.1096G>C XM_011522636.3:c.1096G>T
TSC2 transcript variant X1 XM_011522636.2:c.1096= XM_011522636.2:c.1096G>A XM_011522636.2:c.1096G>C XM_011522636.2:c.1096G>T
TSC2 transcript variant X1 XM_011522636.1:c.1096= XM_011522636.1:c.1096G>A XM_011522636.1:c.1096G>C XM_011522636.1:c.1096G>T
TSC2 transcript variant X2 XM_011522637.3:c.1096= XM_011522637.3:c.1096G>A XM_011522637.3:c.1096G>C XM_011522637.3:c.1096G>T
TSC2 transcript variant X2 XM_011522637.2:c.1096= XM_011522637.2:c.1096G>A XM_011522637.2:c.1096G>C XM_011522637.2:c.1096G>T
TSC2 transcript variant X2 XM_011522637.1:c.1096= XM_011522637.1:c.1096G>A XM_011522637.1:c.1096G>C XM_011522637.1:c.1096G>T
TSC2 transcript variant X3 XM_011522638.3:c.985= XM_011522638.3:c.985G>A XM_011522638.3:c.985G>C XM_011522638.3:c.985G>T
TSC2 transcript variant X4 XM_011522638.2:c.1258= XM_011522638.2:c.1258G>A XM_011522638.2:c.1258G>C XM_011522638.2:c.1258G>T
TSC2 transcript variant X3 XM_011522638.1:c.985= XM_011522638.1:c.985G>A XM_011522638.1:c.985G>C XM_011522638.1:c.985G>T
TSC2 transcript variant X4 XM_011522639.3:c.1096= XM_011522639.3:c.1096G>A XM_011522639.3:c.1096G>C XM_011522639.3:c.1096G>T
TSC2 transcript variant X5 XM_011522639.2:c.1096= XM_011522639.2:c.1096G>A XM_011522639.2:c.1096G>C XM_011522639.2:c.1096G>T
TSC2 transcript variant X4 XM_011522639.1:c.1096= XM_011522639.1:c.1096G>A XM_011522639.1:c.1096G>C XM_011522639.1:c.1096G>T
TSC2 transcript variant X7 XM_011522640.3:c.1096= XM_011522640.3:c.1096G>A XM_011522640.3:c.1096G>C XM_011522640.3:c.1096G>T
TSC2 transcript variant X3 XM_017023615.2:c.1096= XM_017023615.2:c.1096G>A XM_017023615.2:c.1096G>C XM_017023615.2:c.1096G>T
TSC2 transcript variant X5 XM_047434555.1:c.1096= XM_047434555.1:c.1096G>A XM_047434555.1:c.1096G>C XM_047434555.1:c.1096G>T
TSC2 transcript variant X8 XM_047434556.1:c.985= XM_047434556.1:c.985G>A XM_047434556.1:c.985G>C XM_047434556.1:c.985G>T
TSC2 transcript variant X9 XM_047434557.1:c.985= XM_047434557.1:c.985G>A XM_047434557.1:c.985G>C XM_047434557.1:c.985G>T
TSC2 transcript variant 3 NM_021056.1:c.1096= NM_021056.1:c.1096G>A NM_021056.1:c.1096G>C NM_021056.1:c.1096G>T
tuberin isoform 1 NP_000539.2:p.Glu366= NP_000539.2:p.Glu366Lys NP_000539.2:p.Glu366Gln NP_000539.2:p.Glu366Ter
tuberin isoform 5 NP_001107854.1:p.Glu366= NP_001107854.1:p.Glu366Lys NP_001107854.1:p.Glu366Gln NP_001107854.1:p.Glu366Ter
tuberin isoform 2 NP_066399.2:p.Glu366= NP_066399.2:p.Glu366Lys NP_066399.2:p.Glu366Gln NP_066399.2:p.Glu366Ter
tuberin isoform 4 NP_001070651.1:p.Glu366= NP_001070651.1:p.Glu366Lys NP_001070651.1:p.Glu366Gln NP_001070651.1:p.Glu366Ter
tuberin isoform 10 NP_001350457.1:p.Glu366= NP_001350457.1:p.Glu366Lys NP_001350457.1:p.Glu366Gln NP_001350457.1:p.Glu366Ter
tuberin isoform 9 NP_001305761.1:p.Glu377= NP_001305761.1:p.Glu377Lys NP_001305761.1:p.Glu377Gln NP_001305761.1:p.Glu377Ter
tuberin isoform 6 NP_001305756.1:p.Glu329= NP_001305756.1:p.Glu329Lys NP_001305756.1:p.Glu329Gln NP_001305756.1:p.Glu329Ter
tuberin isoform 7 NP_001305758.1:p.Glu317= NP_001305758.1:p.Glu317Lys NP_001305758.1:p.Glu317Gln NP_001305758.1:p.Glu317Ter
tuberin isoform 8 NP_001305760.1:p.Glu166= NP_001305760.1:p.Glu166Lys NP_001305760.1:p.Glu166Gln NP_001305760.1:p.Glu166Ter
tuberin isoform 11 NP_001357333.1:p.Glu366= NP_001357333.1:p.Glu366Lys NP_001357333.1:p.Glu366Gln NP_001357333.1:p.Glu366Ter
tuberin isoform 12 NP_001357334.1:p.Glu366= NP_001357334.1:p.Glu366Lys NP_001357334.1:p.Glu366Gln NP_001357334.1:p.Glu366Ter
tuberin isoform X1 XP_011520938.1:p.Glu366= XP_011520938.1:p.Glu366Lys XP_011520938.1:p.Glu366Gln XP_011520938.1:p.Glu366Ter
tuberin isoform X2 XP_011520939.1:p.Glu366= XP_011520939.1:p.Glu366Lys XP_011520939.1:p.Glu366Gln XP_011520939.1:p.Glu366Ter
tuberin isoform X3 XP_011520940.3:p.Glu329= XP_011520940.3:p.Glu329Lys XP_011520940.3:p.Glu329Gln XP_011520940.3:p.Glu329Ter
tuberin isoform X4 XP_011520941.1:p.Glu366= XP_011520941.1:p.Glu366Lys XP_011520941.1:p.Glu366Gln XP_011520941.1:p.Glu366Ter
tuberin isoform X7 XP_011520942.1:p.Glu366= XP_011520942.1:p.Glu366Lys XP_011520942.1:p.Glu366Gln XP_011520942.1:p.Glu366Ter
tuberin isoform X3 XP_016879104.1:p.Glu366= XP_016879104.1:p.Glu366Lys XP_016879104.1:p.Glu366Gln XP_016879104.1:p.Glu366Ter
tuberin isoform X5 XP_047290511.1:p.Glu366= XP_047290511.1:p.Glu366Lys XP_047290511.1:p.Glu366Gln XP_047290511.1:p.Glu366Ter
tuberin isoform X8 XP_047290512.1:p.Glu329= XP_047290512.1:p.Glu329Lys XP_047290512.1:p.Glu329Gln XP_047290512.1:p.Glu329Ter
tuberin isoform X9 XP_047290513.1:p.Glu329= XP_047290513.1:p.Glu329Lys XP_047290513.1:p.Glu329Gln XP_047290513.1:p.Glu329Ter
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#.

13 SubSNP, 11 Frequency, 9 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC2DB ss71651096 May 17, 2007 (127)
2 OMIM-CURATED-RECORDS ss288287855 Dec 21, 2010 (133)
3 EVA_UK10K_ALSPAC ss1633828043 Apr 01, 2015 (144)
4 EVA_UK10K_TWINSUK ss1676822076 Apr 01, 2015 (144)
5 EVA_EXAC ss1692084226 Apr 01, 2015 (144)
6 HUMAN_LONGEVITY ss2209933990 Dec 20, 2016 (150)
7 GNOMAD ss2741644245 Nov 08, 2017 (151)
8 GNOMAD ss2749431607 Nov 08, 2017 (151)
9 GNOMAD ss2939362305 Nov 08, 2017 (151)
10 TOPMED ss5004894850 Apr 27, 2021 (155)
11 TOPMED ss5004894851 Apr 27, 2021 (155)
12 TOMMO_GENOMICS ss5772394881 Oct 17, 2022 (156)
13 EVA ss5936232563 Oct 17, 2022 (156)
14 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 2110791 Oct 12, 2018 (152)
15 ExAC NC_000016.9 - 2110791 Oct 12, 2018 (152)
16 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 480399099 (NC_000016.10:2060789:G:A 2/140140)
Row 480399100 (NC_000016.10:2060789:G:C 1/140140)

- Apr 27, 2021 (155)
17 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 480399099 (NC_000016.10:2060789:G:A 2/140140)
Row 480399100 (NC_000016.10:2060789:G:C 1/140140)

- Apr 27, 2021 (155)
18 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 10916654 (NC_000016.9:2110790:G:G 250728/250732, NC_000016.9:2110790:G:A 4/250732)
Row 10916655 (NC_000016.9:2110790:G:G 250731/250732, NC_000016.9:2110790:G:C 1/250732)

- Jul 13, 2019 (153)
19 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 10916654 (NC_000016.9:2110790:G:G 250728/250732, NC_000016.9:2110790:G:A 4/250732)
Row 10916655 (NC_000016.9:2110790:G:G 250731/250732, NC_000016.9:2110790:G:C 1/250732)

- Jul 13, 2019 (153)
20 14KJPN NC_000016.10 - 2060790 Oct 17, 2022 (156)
21 TopMed

Submission ignored due to conflicting rows:
Row 220440511 (NC_000016.10:2060789:G:A 1/264690)
Row 220440512 (NC_000016.10:2060789:G:C 1/264690)

- Apr 27, 2021 (155)
22 TopMed

Submission ignored due to conflicting rows:
Row 220440511 (NC_000016.10:2060789:G:A 1/264690)
Row 220440512 (NC_000016.10:2060789:G:C 1/264690)

- Apr 27, 2021 (155)
23 UK 10K study - Twins NC_000016.9 - 2110791 Oct 12, 2018 (152)
24 ALFA NC_000016.10 - 2060790 Apr 27, 2021 (155)
25 ClinVar RCV000042986.3 Oct 17, 2022 (156)
26 ClinVar RCV000055263.6 Oct 17, 2022 (156)
27 ClinVar RCV000230966.14 Oct 17, 2022 (156)
28 ClinVar RCV000497801.1 Oct 12, 2018 (152)
29 ClinVar RCV000568549.2 Oct 17, 2022 (156)
30 ClinVar RCV000644146.4 Oct 17, 2022 (156)
31 ClinVar RCV001118951.3 Oct 17, 2022 (156)
32 ClinVar RCV001194675.2 Oct 17, 2022 (156)
33 ClinVar RCV001721235.2 Oct 17, 2022 (156)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
37848435, 2476452, 37848435, ss1633828043, ss1676822076, ss1692084226, ss2741644245, ss2749431607, ss2939362305, ss5936232563 NC_000016.9:2110790:G:A NC_000016.10:2060789:G:A (self)
RCV000230966.14, RCV000568549.2, RCV001118951.3, RCV001721235.2, 106231985, 13153706753, ss2209933990, ss5004894850, ss5772394881 NC_000016.10:2060789:G:A NC_000016.10:2060789:G:A (self)
ss2741644245, ss5936232563 NC_000016.9:2110790:G:C NC_000016.10:2060789:G:C (self)
RCV000644146.4, 13153706753, ss2209933990, ss5004894851 NC_000016.10:2060789:G:C NC_000016.10:2060789:G:C (self)
RCV000042986.3, RCV000055263.6, RCV000497801.1, RCV001194675.2, ss71651096, ss288287855 NC_000016.10:2060789:G:T NC_000016.10:2060789:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs45517148
PMID Title Author Year Journal
10823953 Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Carsillo T et al. 2000 Proceedings of the National Academy of Sciences of the United States of America
11112665 Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Dabora SL et al. 2001 American journal of human genetics
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
Top▲ Help

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.

Software version is: 2.0.1.post761+d5e8e07