Canonical Allele Identifier: CA115834

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 2892
• ClinVar RCV Id: RCV000003026 ; RCV001580165
• dbSNP Id: rs137852906
• ExAC: 17:42457372 G / A
• gnomAD v2: 17-42457372-G-A
• gnomAD v4: 17-44380004-G-A
• MyVariant Identifiers: chr17:g.42457372G>A (hg19) ; chr17:g.44380004G>A (hg38)
• ERepo: CA115834/MONDO:0010119/011
• PubMed: PMID:1317725

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44380004G>A , CM000679.2:g.44380004G>A	GRCh38
NC_000017.10:g.42457372G>A , CM000679.1:g.42457372G>A	GRCh37
NC_000017.9:g.39812898G>A	NCBI36
NG_008331.1:g.14502C>T , LRG_479:g.14502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.1750C>T MANE Select	ENSP00000262407.5:p.Arg584Ter
ENST00000648408.1:c.1181C>T
ENST00000262407.5:c.1750C>T	ENSP00000262407.5:p.Arg584Ter
ENST00000592462.5:n.545C>T
NM_000419.3:c.1750C>T , LRG_479t1:c.1750C>T	NP_000410.2:p.Arg584Ter
XM_011524749.1:c.1750C>T	XP_011523051.1:p.Arg584Ter
XM_011524750.1:c.1750C>T	XP_011523052.1:p.Arg584Ter
NM_000419.4:c.1750C>T	NP_000410.2:p.Arg584Ter
NM_000419.5:c.1750C>T MANE Select	NP_000410.2:p.Arg584Ter