Canonical Allele Identifier: CA399790170

Gene: ITGA2B

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374461G>A , CM000679.2:g.44374461G>A	GRCh38
NC_000017.10:g.42451829G>A , CM000679.1:g.42451829G>A	GRCh37
NC_000017.9:g.39807355G>A	NCBI36
NG_008331.1:g.20045C>T , LRG_479:g.20045C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000419.5:c.2953C>T MANE Select	NP_000410.2:p.Gln985Ter
ENST00000262407.6:c.2953C>T MANE Select	ENSP00000262407.5:p.Gln985Ter
NM_000419.3:c.2953C>T , LRG_479t1:c.2953C>T	NP_000410.2:p.Gln985Ter
NM_000419.4:c.2953C>T	NP_000410.2:p.Gln985Ter
ENST00000262407.5:c.2953C>T	ENSP00000262407.5:p.Gln985Ter
ENST00000587295.5:c.253+1372C>T
ENST00000588098.1:c.37+198C>T
ENST00000592462.5:n.2652C>T
ENST00000648408.1:c.2374+198C>T
XM_011524749.1:c.2851C>T	XP_011523051.1:p.Gln951Ter
XM_011524750.1:c.2943+198C>T	XP_011523052.1:n.2943+198C>T