Canonical Allele Identifier: CA10575573
Gene: ITGA2B HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'