Canonical Allele Identifier: CA981235217

Gene: VAMP2

Linked Data

• dbSNP Id: rs1983216048
• gnomAD v3: 17-8159242-A-C
• gnomAD v4: 17-8159242-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8159242A>C , CM000679.2:g.8159242A>C	GRCh38
NC_000017.10:g.8062560A>C , CM000679.1:g.8062560A>C	GRCh37
NC_000017.9:g.8003285A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316509.11:c.*1613T>G MANE Select	ENSP00000314214.6:n.*1613T>G
ENST00000316509.10:c.*1613T>G	ENSP00000314214.6:n.*1613T>G
ENST00000498285.1:c.334+2231T>G	ENSP00000464383.1:n.334+2231T>G
NM_014232.2:c.*1613T>G	NP_055047.2:n.*1613T>G
NM_001330125.1:c.*1613T>G	NP_001317054.1:n.*1613T>G
NM_014232.3:c.*1613T>G MANE Select	NP_055047.2:n.*1613T>G