Canonical Allele Identifier: CA500265355

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 2868005
• ClinVar RCV Id: RCV003605537
• gnomAD v4: 17-44375702-C-T
• MyVariant Identifiers: chr17:g.42453070C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375702C>T , CM000679.2:g.44375702C>T	GRCh38
NC_000017.10:g.42453070C>T , CM000679.1:g.42453070C>T	GRCh37
NC_000017.9:g.39808596C>T	NCBI36
NG_008331.1:g.18804G>A , LRG_479:g.18804G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2616G>A MANE Select	ENSP00000262407.5:p.Leu872=
ENST00000648408.1:c.2047G>A
ENST00000262407.5:c.2616G>A	ENSP00000262407.5:p.Leu872=
ENST00000587295.5:c.253+131G>A
ENST00000592462.5:n.1411G>A
NM_000419.3:c.2616G>A , LRG_479t1:c.2616G>A	NP_000410.2:p.Leu872=
XM_011524749.1:c.2616G>A	XP_011523051.1:p.Leu872=
XM_011524750.1:c.2616G>A	XP_011523052.1:p.Leu872=
NM_000419.4:c.2616G>A	NP_000410.2:p.Leu872=
NM_000419.5:c.2616G>A MANE Select	NP_000410.2:p.Leu872=