Canonical Allele Identifier: CA8602510

Gene: ITGA2B

Linked Data

• dbSNP Id: rs753220968
• ExAC: 17:42451983 T / A
• gnomAD v2: 17-42451983-T-A
• gnomAD v3: 17-44374615-T-A
• gnomAD v4: 17-44374615-T-A
• MyVariant Identifiers: chr17:g.42451983T>A (hg19) ; chr17:g.44374615T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374615T>A , CM000679.2:g.44374615T>A	GRCh38
NC_000017.10:g.42451983T>A , CM000679.1:g.42451983T>A	GRCh37
NC_000017.9:g.39807509T>A	NCBI36
NG_008331.1:g.19891A>T , LRG_479:g.19891A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2943+44A>T MANE Select	ENSP00000262407.5:n.2943+44A>T
ENST00000648408.1:c.2374+44A>T
ENST00000262407.5:c.2943+44A>T	ENSP00000262407.5:n.2943+44A>T
ENST00000587295.5:c.253+1218A>T
ENST00000588098.1:c.37+44A>T
ENST00000592462.5:n.2498A>T
NM_000419.3:c.2943+44A>T , LRG_479t1:c.2943+44A>T	NP_000410.2:n.2943+44A>T
XM_011524749.1:c.2842-145A>T	XP_011523051.1:n.2842-145A>T
XM_011524750.1:c.2943+44A>T	XP_011523052.1:n.2943+44A>T
NM_000419.4:c.2943+44A>T	NP_000410.2:n.2943+44A>T
NM_000419.5:c.2943+44A>T MANE Select	NP_000410.2:n.2943+44A>T