Canonical Allele Identifier: CA399804765
Community Standard Title: NM_000419.5(ITGA2B):c.962G>T (p.Gly321Val)
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44383930C>A , CM000679.2:g.44383930C>A GRCh38
NC_000017.10:g.42461298C>A , CM000679.1:g.42461298C>A GRCh37
NC_000017.9:g.39816824C>A NCBI36
NG_008331.1:g.10576G>T , LRG_479:g.10576G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.962G>T MANE Select NP_000410.2:p.Gly321Val
ENST00000262407.6:c.962G>T MANE Select ENSP00000262407.5:p.Gly321Val
NM_000419.3:c.962G>T , LRG_479t1:c.962G>T NP_000410.2:p.Gly321Val
NM_000419.4:c.962G>T NP_000410.2:p.Gly321Val
ENST00000262407.5:c.962G>T ENSP00000262407.5:p.Gly321Val
ENST00000589645.5:n.413G>T
ENST00000591990.5:n.507G>T
ENST00000592226.5:n.202G>T
ENST00000648408.1:c.393G>T
XM_011524749.1:c.962G>T XP_011523051.1:p.Gly321Val
XM_011524750.1:c.962G>T XP_011523052.1:p.Gly321Val