Canonical Allele Identifier: CA2808398643

Gene: VAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8159225A>C , CM000679.2:g.8159225A>C	GRCh38
NC_000017.10:g.8062543A>C , CM000679.1:g.8062543A>C	GRCh37
NC_000017.9:g.8003268A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316509.11:c.*1630T>G MANE Select	ENSP00000314214.6:n.*1630T>G
ENST00000316509.10:c.*1630T>G	ENSP00000314214.6:n.*1630T>G
ENST00000498285.1:c.334+2248T>G	ENSP00000464383.1:n.334+2248T>G
NM_014232.2:c.*1630T>G	NP_055047.2:n.*1630T>G
NM_001330125.1:c.*1630T>G	NP_001317054.1:n.*1630T>G
NM_014232.3:c.*1630T>G MANE Select	NP_055047.2:n.*1630T>G