Canonical Allele Identifier: CA2261365257
Community Standard Title: NM_000419.5(ITGA2B):c.2944G= (p.Val982=)
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374470C= , CM000679.2:g.44374470C= GRCh38
NC_000017.10:g.42451838C= , CM000679.1:g.42451838C= GRCh37
NC_000017.9:g.39807364C= NCBI36
NG_008331.1:g.20036G= , LRG_479:g.20036G=

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.2944G= MANE Select NP_000410.2:p.Val982=
ENST00000262407.6:c.2944G= MANE Select ENSP00000262407.5:p.Val982=
NM_000419.3:c.2944G= , LRG_479t1:c.2944G= NP_000410.2:p.Val982=
NM_000419.4:c.2944G= NP_000410.2:p.Val982=
ENST00000262407.5:c.2944G= ENSP00000262407.5:p.Val982=
ENST00000587295.5:c.253+1363G=
ENST00000588098.1:c.37+189G=
ENST00000592462.5:n.2643G=
ENST00000648408.1:c.2374+189G=
XM_011524749.1:c.2842G= XP_011523051.1:p.Val948=
XM_011524750.1:c.2943+189G= XP_011523052.1:n.2943+189G=