Canonical Allele Identifier: CA8602541

Gene: ITGA2B

Linked Data

• dbSNP Id: rs772351917
• ExAC: 17:42452080 A / T
• gnomAD v2: 17-42452080-A-T
• gnomAD v4: 17-44374712-A-T
• MyVariant Identifiers: chr17:g.42452080A>T (hg19) ; chr17:g.44374712A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374712A>T , CM000679.2:g.44374712A>T	GRCh38
NC_000017.10:g.42452080A>T , CM000679.1:g.42452080A>T	GRCh37
NC_000017.9:g.39807606A>T	NCBI36
NG_008331.1:g.19794T>A , LRG_479:g.19794T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2890T>A MANE Select	ENSP00000262407.5:p.Ser964Thr
ENST00000648408.1:c.2321T>A
ENST00000262407.5:c.2890T>A	ENSP00000262407.5:p.Ser964Thr
ENST00000587295.5:c.253+1121T>A
ENST00000592462.5:n.2401T>A
NM_000419.3:c.2890T>A , LRG_479t1:c.2890T>A	NP_000410.2:p.Ser964Thr
XM_011524749.1:c.2842-242T>A	XP_011523051.1:n.2842-242T>A
XM_011524750.1:c.2890T>A	XP_011523052.1:p.Ser964Thr
NM_000419.4:c.2890T>A	NP_000410.2:p.Ser964Thr
NM_000419.5:c.2890T>A MANE Select	NP_000410.2:p.Ser964Thr