Canonical Allele Identifier: CA399787566
Gene: ITGA2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372365C>A , CM000679.2:g.44372365C>A GRCh38
NC_000017.10:g.42449733C>A , CM000679.1:g.42449733C>A GRCh37
NC_000017.9:g.39805259C>A NCBI36
NG_008331.1:g.22141G>T , LRG_479:g.22141G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3119G>T MANE Select ENSP00000262407.5:p.Ter1040Leu
ENST00000648408.1:c.2433G>T
ENST00000262407.5:c.3119G>T ENSP00000262407.5:p.Ter1040Leu
ENST00000587295.5:c.312G>T
ENST00000588098.1:c.96G>T
NM_000419.3:c.3119G>T , LRG_479t1:c.3119G>T NP_000410.2:p.Ter1040Leu
XM_011524749.1:c.3017G>T XP_011523051.1:p.Ter1006Leu
XM_011524750.1:c.3002G>T XP_011523052.1:p.Ter1001Leu
NM_000419.4:c.3119G>T NP_000410.2:p.Ter1040Leu
NM_000419.5:c.3119G>T MANE Select NP_000410.2:p.Ter1040Leu