Canonical Allele Identifier: CA500261104
Community Standard Title: NM_000419.5(ITGA2B):c.3060G>A (p.Lys1020=)
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374354C>T , CM000679.2:g.44374354C>T GRCh38
NC_000017.10:g.42451722C>T , CM000679.1:g.42451722C>T GRCh37
NC_000017.9:g.39807248C>T NCBI36
NG_008331.1:g.20152G>A , LRG_479:g.20152G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.3060G>A MANE Select NP_000410.2:p.Lys1020=
ENST00000262407.6:c.3060G>A MANE Select ENSP00000262407.5:p.Lys1020=
NM_000419.3:c.3060G>A , LRG_479t1:c.3060G>A NP_000410.2:p.Lys1020=
NM_000419.4:c.3060G>A NP_000410.2:p.Lys1020=
ENST00000262407.5:c.3060G>A ENSP00000262407.5:p.Lys1020=
ENST00000587295.5:c.253+1479G>A
ENST00000588098.1:c.37+305G>A
ENST00000592462.5:n.2759G>A
ENST00000648408.1:c.2374+305G>A
XM_011524749.1:c.2958G>A XP_011523051.1:p.Lys986=
XM_011524750.1:c.2943+305G>A XP_011523052.1:n.2943+305G>A