Canonical Allele Identifier: CA8602542

Gene: ITGA2B

Linked Data

• dbSNP Id: rs773090051
• ExAC: 17:42452088 A / C
• gnomAD v2: 17-42452088-A-C
• MyVariant Identifiers: chr17:g.42452088A>C (hg19) ; chr17:g.44374720A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374720A>C , CM000679.2:g.44374720A>C	GRCh38
NC_000017.10:g.42452088A>C , CM000679.1:g.42452088A>C	GRCh37
NC_000017.9:g.39807614A>C	NCBI36
NG_008331.1:g.19786T>G , LRG_479:g.19786T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2882T>G MANE Select	ENSP00000262407.5:p.Phe961Cys
ENST00000648408.1:c.2313T>G
ENST00000262407.5:c.2882T>G	ENSP00000262407.5:p.Phe961Cys
ENST00000587295.5:c.253+1113T>G
ENST00000592462.5:n.2393T>G
NM_000419.3:c.2882T>G , LRG_479t1:c.2882T>G	NP_000410.2:p.Phe961Cys
XM_011524749.1:c.2842-250T>G	XP_011523051.1:n.2842-250T>G
XM_011524750.1:c.2882T>G	XP_011523052.1:p.Phe961Cys
NM_000419.4:c.2882T>G	NP_000410.2:p.Phe961Cys
NM_000419.5:c.2882T>G MANE Select	NP_000410.2:p.Phe961Cys