Canonical Allele Identifier: CA10575573

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 50233
• ClinVar RCV Id: RCV000043486 ; RCV000851592 ; RCV001003530 ; RCV001818214 ; RCV003147330
• dbSNP Id: rs766503255
• gnomAD v4: 17-44372408-G-A
• COSMIC: COSM1383665
• MyVariant Identifiers: chr17:g.42449776G>A (hg19) ; chr17:g.44372408G>A (hg38)
• ERepo: CA10575573/MONDO:0010119/011
• PubMed: PMID:21454453

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44372408G>A , CM000679.2:g.44372408G>A	GRCh38
NC_000017.10:g.42449776G>A , CM000679.1:g.42449776G>A	GRCh37
NC_000017.9:g.39805302G>A	NCBI36
NG_008331.1:g.22098C>T , LRG_479:g.22098C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.3076C>T MANE Select	ENSP00000262407.5:p.Arg1026Trp
ENST00000648408.1:c.2390C>T
ENST00000262407.5:c.3076C>T	ENSP00000262407.5:p.Arg1026Trp
ENST00000587295.5:c.269C>T
ENST00000588098.1:c.53C>T
NM_000419.3:c.3076C>T , LRG_479t1:c.3076C>T	NP_000410.2:p.Arg1026Trp
XM_011524749.1:c.2974C>T	XP_011523051.1:p.Arg992Trp
XM_011524750.1:c.2959C>T	XP_011523052.1:p.Arg987Trp
NM_000419.4:c.3076C>T	NP_000410.2:p.Arg1026Trp
NM_000419.5:c.3076C>T MANE Select	NP_000410.2:p.Arg1026Trp