Canonical Allele Identifier: CA399787956
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1330348
ClinVar RCV Id: RCV001803441
dbSNP Id: rs2143417795

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372422A>G , CM000679.2:g.44372422A>G GRCh38
NC_000017.10:g.42449790A>G , CM000679.1:g.42449790A>G GRCh37
NC_000017.9:g.39805316A>G NCBI36
NG_008331.1:g.22084T>C , LRG_479:g.22084T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3062T>C MANE Select ENSP00000262407.5:p.Val1021Ala
ENST00000648408.1:c.2376T>C
ENST00000262407.5:c.3062T>C ENSP00000262407.5:p.Val1021Ala
ENST00000587295.5:c.255T>C
ENST00000588098.1:c.39T>C
NM_000419.3:c.3062T>C , LRG_479t1:c.3062T>C NP_000410.2:p.Val1021Ala
XM_011524749.1:c.2960T>C XP_011523051.1:p.Val987Ala
XM_011524750.1:c.2945T>C XP_011523052.1:p.Val982Ala
NM_000419.4:c.3062T>C NP_000410.2:p.Val1021Ala
NM_000419.5:c.3062T>C MANE Select NP_000410.2:p.Val1021Ala