Canonical Allele Identifier: CA397965156
Gene: VAMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8161634G>A , CM000679.2:g.8161634G>A GRCh38
NC_000017.10:g.8064952G>A , CM000679.1:g.8064952G>A GRCh37
NC_000017.9:g.8005677G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014232.3:c.256C>T MANE Select NP_055047.2:p.Arg86Cys
ENST00000316509.11:c.256C>T MANE Select ENSP00000314214.6:p.Arg86Cys
NM_001330125.1:c.262C>T NP_001317054.1:p.Arg88Cys
NM_014232.2:c.256C>T NP_055047.2:p.Arg86Cys
ENST00000316509.10:c.256C>T ENSP00000314214.6:p.Arg86Cys
ENST00000404970.3:c.121C>T ENSP00000466995.1:p.Arg41Cys
ENST00000481878.1:c.256C>T ENSP00000467399.1:p.Arg86Cys
ENST00000488857.5:c.262C>T ENSP00000418572.1:p.Arg88Cys
ENST00000498285.1:c.256C>T ENSP00000464383.1:p.Arg86Cys
ENST00000711100.1:c.*277C>T ENSP00000518578.1:n.*277C>T
XM_005256775.3:c.262C>T XP_005256832.1:p.Arg88Cys