Canonical Allele Identifier: CA399804787
Community Standard Title: NM_000419.5(ITGA2B):c.953C>T (p.Ser318Leu)
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44383939G>A , CM000679.2:g.44383939G>A GRCh38
NC_000017.10:g.42461307G>A , CM000679.1:g.42461307G>A GRCh37
NC_000017.9:g.39816833G>A NCBI36
NG_008331.1:g.10567C>T , LRG_479:g.10567C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.953C>T MANE Select NP_000410.2:p.Ser318Leu
ENST00000262407.6:c.953C>T MANE Select ENSP00000262407.5:p.Ser318Leu
NM_000419.3:c.953C>T , LRG_479t1:c.953C>T NP_000410.2:p.Ser318Leu
NM_000419.4:c.953C>T NP_000410.2:p.Ser318Leu
ENST00000262407.5:c.953C>T ENSP00000262407.5:p.Ser318Leu
ENST00000589645.5:n.404C>T
ENST00000591990.5:n.498C>T
ENST00000592075.5:n.460C>T
ENST00000592226.5:n.193C>T
ENST00000592253.5:n.461C>T
ENST00000648408.1:c.384C>T
XM_011524749.1:c.953C>T XP_011523051.1:p.Ser318Leu
XM_011524750.1:c.953C>T XP_011523052.1:p.Ser318Leu