Canonical Allele Identifier: CA287514023
Gene: VAMP2 HGNC NCBI

Linked Data

dbSNP Id: rs951501066
gnomAD v2: 17-8062536-T-G
gnomAD v3: 17-8159218-T-G
gnomAD v4: 17-8159218-T-G
MyVariant Identifiers: chr17:g.8062536T>G (hg19) chr17:g.8159218T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8159218T>G , CM000679.2:g.8159218T>G GRCh38
NC_000017.10:g.8062536T>G , CM000679.1:g.8062536T>G GRCh37
NC_000017.9:g.8003261T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316509.11:c.*1637A>C MANE Select ENSP00000314214.6:n.*1637A>C
ENST00000316509.10:c.*1637A>C ENSP00000314214.6:n.*1637A>C
ENST00000498285.1:c.334+2255A>C ENSP00000464383.1:n.334+2255A>C
NM_014232.2:c.*1637A>C NP_055047.2:n.*1637A>C
NM_001330125.1:c.*1637A>C NP_001317054.1:n.*1637A>C
NM_014232.3:c.*1637A>C MANE Select NP_055047.2:n.*1637A>C
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