Canonical Allele Identifier: CA500262524
Gene: ITGA2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.42452047G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374679G>A , CM000679.2:g.44374679G>A GRCh38
NC_000017.10:g.42452047G>A , CM000679.1:g.42452047G>A GRCh37
NC_000017.9:g.39807573G>A NCBI36
NG_008331.1:g.19827C>T , LRG_479:g.19827C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2923C>T MANE Select ENSP00000262407.5:p.Leu975=
ENST00000648408.1:c.2354C>T
ENST00000262407.5:c.2923C>T ENSP00000262407.5:p.Leu975=
ENST00000587295.5:c.253+1154C>T
ENST00000588098.1:c.17C>T
ENST00000592462.5:n.2434C>T
NM_000419.3:c.2923C>T , LRG_479t1:c.2923C>T NP_000410.2:p.Leu975=
XM_011524749.1:c.2842-209C>T XP_011523051.1:n.2842-209C>T
XM_011524750.1:c.2923C>T XP_011523052.1:p.Leu975=
NM_000419.4:c.2923C>T NP_000410.2:p.Leu975=
NM_000419.5:c.2923C>T MANE Select NP_000410.2:p.Leu975=