Canonical Allele Identifier: CA290954698

Gene: ITGA2B

Linked Data

• dbSNP Id: rs897169718
• gnomAD v3: 17-44384570-A-T
• gnomAD v4: 17-44384570-A-T
• MyVariant Identifiers: chr17:g.42461938A>T (hg19) ; chr17:g.44384570A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44384570A>T , CM000679.2:g.44384570A>T	GRCh38
NC_000017.10:g.42461938A>T , CM000679.1:g.42461938A>T	GRCh37
NC_000017.9:g.39817464A>T	NCBI36
NG_008331.1:g.9936T>A , LRG_479:g.9936T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.815T>A MANE Select	ENSP00000262407.5:p.Val272Glu
ENST00000648408.1:c.246T>A
ENST00000262407.5:c.815T>A	ENSP00000262407.5:p.Val272Glu
ENST00000589645.5:n.266T>A
ENST00000591990.5:n.177T>A
ENST00000592075.5:n.184T>A
ENST00000592226.5:n.55T>A
ENST00000592253.5:n.323T>A
ENST00000592944.1:n.497T>A
NM_000419.3:c.815T>A , LRG_479t1:c.815T>A	NP_000410.2:p.Val272Glu
XM_011524749.1:c.815T>A	XP_011523051.1:p.Val272Glu
XM_011524750.1:c.815T>A	XP_011523052.1:p.Val272Glu
NM_000419.4:c.815T>A	NP_000410.2:p.Val272Glu
NM_000419.5:c.815T>A MANE Select	NP_000410.2:p.Val272Glu