Canonical Allele Identifier: CA8602530
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 435530
dbSNP Id: rs5913

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374686C>T , CM000679.2:g.44374686C>T GRCh38
NC_000017.10:g.42452054C>T , CM000679.1:g.42452054C>T GRCh37
NC_000017.9:g.39807580C>T NCBI36
NG_008331.1:g.19820G>A , LRG_479:g.19820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2916G>A MANE Select ENSP00000262407.5:p.Pro972=
ENST00000648408.1:c.2347G>A
ENST00000262407.5:c.2916G>A ENSP00000262407.5:p.Pro972=
ENST00000587295.5:c.253+1147G>A
ENST00000588098.1:c.10G>A
ENST00000592462.5:n.2427G>A
NM_000419.3:c.2916G>A , LRG_479t1:c.2916G>A NP_000410.2:p.Pro972=
XM_011524749.1:c.2842-216G>A XP_011523051.1:n.2842-216G>A
XM_011524750.1:c.2916G>A XP_011523052.1:p.Pro972=
NM_000419.4:c.2916G>A NP_000410.2:p.Pro972=
NM_000419.5:c.2916G>A MANE Select NP_000410.2:p.Pro972=