Canonical Allele Identifier: CA290947544

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 225393
• ClinVar RCV Id: RCV000490428 ; RCV002254157 ; RCV004547508
• dbSNP Id: rs74475415
• gnomAD v2: 17-42453691-T-G
• gnomAD v4: 17-44376323-T-G
• MyVariant Identifiers: chr17:g.42453691T>G (hg19) ; chr17:g.44376323T>G (hg38)
• PubMed: PMID:9722314 ; PMID:22190468
• ERepo: CA290947544/MONDO:0010119/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44376323T>G , CM000679.2:g.44376323T>G	GRCh38
NC_000017.10:g.42453691T>G , CM000679.1:g.42453691T>G	GRCh37
NC_000017.9:g.39809217T>G	NCBI36
NG_008331.1:g.18183A>C , LRG_479:g.18183A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2333A>C MANE Select	ENSP00000262407.5:p.Gln778Pro
ENST00000648408.1:c.1764A>C
ENST00000262407.5:c.2333A>C	ENSP00000262407.5:p.Gln778Pro
ENST00000592462.5:n.1128A>C
NM_000419.3:c.2333A>C , LRG_479t1:c.2333A>C	NP_000410.2:p.Gln778Pro
XM_011524749.1:c.2333A>C	XP_011523051.1:p.Gln778Pro
XM_011524750.1:c.2333A>C	XP_011523052.1:p.Gln778Pro
NM_000419.4:c.2333A>C	NP_000410.2:p.Gln778Pro
NM_000419.5:c.2333A>C MANE Select	NP_000410.2:p.Gln778Pro