Canonical Allele Identifier: CA624722402

Gene: VAMP2

Linked Data

• dbSNP Id: rs1260537939
• gnomAD v2: 17-8062545-A-G
• gnomAD v3: 17-8159227-A-G
• gnomAD v4: 17-8159227-A-G
• MyVariant Identifiers: chr17:g.8062545A>G (hg19) ; chr17:g.8159227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8159227A>G , CM000679.2:g.8159227A>G	GRCh38
NC_000017.10:g.8062545A>G , CM000679.1:g.8062545A>G	GRCh37
NC_000017.9:g.8003270A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316509.11:c.*1628T>C MANE Select	ENSP00000314214.6:n.*1628T>C
ENST00000316509.10:c.*1628T>C	ENSP00000314214.6:n.*1628T>C
ENST00000498285.1:c.334+2246T>C	ENSP00000464383.1:n.334+2246T>C
NM_014232.2:c.*1628T>C	NP_055047.2:n.*1628T>C
NM_001330125.1:c.*1628T>C	NP_001317054.1:n.*1628T>C
NM_014232.3:c.*1628T>C MANE Select	NP_055047.2:n.*1628T>C