Canonical Allele Identifier: CA290946484
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 996165
ClinVar RCV Id: RCV001290459
dbSNP Id: rs77458039

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44375039C>A , CM000679.2:g.44375039C>A GRCh38
NC_000017.10:g.42452407C>A , CM000679.1:g.42452407C>A GRCh37
NC_000017.9:g.39807933C>A NCBI36
NG_008331.1:g.19467G>T , LRG_479:g.19467G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.2800G>T MANE Select ENSP00000262407.5:p.Val934Phe
ENST00000648408.1:c.2231G>T
ENST00000262407.5:c.2800G>T ENSP00000262407.5:p.Val934Phe
ENST00000587295.5:c.253+794G>T
ENST00000592462.5:n.2074G>T
NM_000419.3:c.2800G>T , LRG_479t1:c.2800G>T NP_000410.2:p.Val934Phe
XM_011524749.1:c.2800G>T XP_011523051.1:p.Val934Phe
XM_011524750.1:c.2800G>T XP_011523052.1:p.Val934Phe
NM_000419.4:c.2800G>T NP_000410.2:p.Val934Phe
NM_000419.5:c.2800G>T MANE Select NP_000410.2:p.Val934Phe