Canonical Allele Identifier: CA399791348
Gene: ITGA2B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374759C>T , CM000679.2:g.44374759C>T GRCh38
NC_000017.10:g.42452127C>T , CM000679.1:g.42452127C>T GRCh37
NC_000017.9:g.39807653C>T NCBI36
NG_008331.1:g.19747G>A , LRG_479:g.19747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2843G>A MANE Select ENSP00000262407.5:p.Arg948Lys
ENST00000648408.1:c.2274G>A
ENST00000262407.5:c.2843G>A ENSP00000262407.5:p.Arg948Lys
ENST00000587295.5:c.253+1074G>A
ENST00000592462.5:n.2354G>A
NM_000419.3:c.2843G>A , LRG_479t1:c.2843G>A NP_000410.2:p.Arg948Lys
XM_011524749.1:c.2841+239G>A XP_011523051.1:n.2841+239G>A
XM_011524750.1:c.2843G>A XP_011523052.1:p.Arg948Lys
NM_000419.4:c.2843G>A NP_000410.2:p.Arg948Lys
NM_000419.5:c.2843G>A MANE Select NP_000410.2:p.Arg948Lys