Canonical Allele Identifier: CA626224627

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1378013461
• gnomAD v2: 17-42462496-G-T
• gnomAD v4: 17-44385128-G-T
• MyVariant Identifiers: chr17:g.42462496G>T (hg19) ; chr17:g.44385128G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385128G>T , CM000679.2:g.44385128G>T	GRCh38
NC_000017.10:g.42462496G>T , CM000679.1:g.42462496G>T	GRCh37
NC_000017.9:g.39818022G>T	NCBI36
NG_008331.1:g.9378C>A , LRG_479:g.9378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.670+36C>A MANE Select	ENSP00000262407.5:n.670+36C>A
ENST00000648408.1:c.101+36C>A
ENST00000262407.5:c.670+36C>A	ENSP00000262407.5:n.670+36C>A
ENST00000589645.5:n.121+36C>A
ENST00000591990.5:n.32+36C>A
ENST00000592075.5:n.39+36C>A
ENST00000592226.5:n.39+36C>A
ENST00000592253.5:n.178+36C>A
ENST00000592944.1:n.352+36C>A
NM_000419.3:c.670+36C>A , LRG_479t1:c.670+36C>A	NP_000410.2:n.670+36C>A
XM_011524749.1:c.670+36C>A	XP_011523051.1:n.670+36C>A
XM_011524750.1:c.670+36C>A	XP_011523052.1:n.670+36C>A
NM_000419.4:c.670+36C>A	NP_000410.2:n.670+36C>A
NM_000419.5:c.670+36C>A MANE Select	NP_000410.2:n.670+36C>A