Canonical Allele Identifier: CA399790180
Community Standard Title: NM_000419.5(ITGA2B):c.2951C>A (p.Thr984Lys)
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374463G>T , CM000679.2:g.44374463G>T GRCh38
NC_000017.10:g.42451831G>T , CM000679.1:g.42451831G>T GRCh37
NC_000017.9:g.39807357G>T NCBI36
NG_008331.1:g.20043C>A , LRG_479:g.20043C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.2951C>A MANE Select NP_000410.2:p.Thr984Lys
ENST00000262407.6:c.2951C>A MANE Select ENSP00000262407.5:p.Thr984Lys
NM_000419.3:c.2951C>A , LRG_479t1:c.2951C>A NP_000410.2:p.Thr984Lys
NM_000419.4:c.2951C>A NP_000410.2:p.Thr984Lys
ENST00000262407.5:c.2951C>A ENSP00000262407.5:p.Thr984Lys
ENST00000587295.5:c.253+1370C>A
ENST00000588098.1:c.37+196C>A
ENST00000592462.5:n.2650C>A
ENST00000648408.1:c.2374+196C>A
XM_011524749.1:c.2849C>A XP_011523051.1:p.Thr950Lys
XM_011524750.1:c.2943+196C>A XP_011523052.1:n.2943+196C>A