Canonical Allele Identifier: CA8603390

Gene: ITGA2B

Linked Data

• dbSNP Id: rs762724640
• ExAC: 17:42462511 G / A
• gnomAD v2: 17-42462511-G-A
• gnomAD v3: 17-44385143-G-A
• gnomAD v4: 17-44385143-G-A
• MyVariant Identifiers: chr17:g.42462511G>A (hg19) ; chr17:g.44385143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385143G>A , CM000679.2:g.44385143G>A	GRCh38
NC_000017.10:g.42462511G>A , CM000679.1:g.42462511G>A	GRCh37
NC_000017.9:g.39818037G>A	NCBI36
NG_008331.1:g.9363C>T , LRG_479:g.9363C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.670+21C>T MANE Select	ENSP00000262407.5:n.670+21C>T
ENST00000648408.1:c.101+21C>T
ENST00000262407.5:c.670+21C>T	ENSP00000262407.5:n.670+21C>T
ENST00000589645.5:n.121+21C>T
ENST00000591990.5:n.32+21C>T
ENST00000592075.5:n.39+21C>T
ENST00000592226.5:n.39+21C>T
ENST00000592253.5:n.178+21C>T
ENST00000592944.1:n.352+21C>T
NM_000419.3:c.670+21C>T , LRG_479t1:c.670+21C>T	NP_000410.2:n.670+21C>T
XM_011524749.1:c.670+21C>T	XP_011523051.1:n.670+21C>T
XM_011524750.1:c.670+21C>T	XP_011523052.1:n.670+21C>T
NM_000419.4:c.670+21C>T	NP_000410.2:n.670+21C>T
NM_000419.5:c.670+21C>T MANE Select	NP_000410.2:n.670+21C>T