Canonical Allele Identifier: CA2638214841

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44374603-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374603A>C , CM000679.2:g.44374603A>C	GRCh38
NC_000017.10:g.42451971A>C , CM000679.1:g.42451971A>C	GRCh37
NC_000017.9:g.39807497A>C	NCBI36
NG_008331.1:g.19903T>G , LRG_479:g.19903T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2943+56T>G MANE Select	ENSP00000262407.5:n.2943+56T>G
ENST00000648408.1:c.2374+56T>G
ENST00000262407.5:c.2943+56T>G	ENSP00000262407.5:n.2943+56T>G
ENST00000587295.5:c.253+1230T>G
ENST00000588098.1:c.37+56T>G
ENST00000592462.5:n.2510T>G
NM_000419.3:c.2943+56T>G , LRG_479t1:c.2943+56T>G	NP_000410.2:n.2943+56T>G
XM_011524749.1:c.2842-133T>G	XP_011523051.1:n.2842-133T>G
XM_011524750.1:c.2943+56T>G	XP_011523052.1:n.2943+56T>G
NM_000419.4:c.2943+56T>G	NP_000410.2:n.2943+56T>G
NM_000419.5:c.2943+56T>G MANE Select	NP_000410.2:n.2943+56T>G