Canonical Allele Identifier: CA915940334
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1879036
ClinVar RCV Id: RCV002511537

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44379798dup , CM000679.2:g.44379798dup GRCh38
NC_000017.10:g.42457166dup , CM000679.1:g.42457166dup GRCh37
NC_000017.9:g.39812692dup NCBI36
NG_008331.1:g.14710dup , LRG_479:g.14710dup

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.1771dup MANE Select ENSP00000262407.5:p.Asp591GlyfsTer?
ENST00000648408.1:c.1202dup
ENST00000262407.5:c.1771dup ENSP00000262407.5:p.Asp591GlyfsTer?
ENST00000592462.5:n.566dup
NM_000419.3:c.1771dup , LRG_479t1:c.1771dup NP_000410.2:p.Asp591GlyfsTer?
XM_011524749.1:c.1771dup XP_011523051.1:p.Asp591GlyfsTer?
XM_011524750.1:c.1771dup XP_011523052.1:p.Asp591GlyfsTer?
NM_000419.4:c.1771dup NP_000410.2:p.Asp591GlyfsTer?
NM_000419.5:c.1771dup MANE Select NP_000410.2:p.Asp591GlyfsTer?