Canonical Allele Identifier: CA399792801

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1288732909
• gnomAD v2: 17-42452972-T-A
• gnomAD v4: 17-44375604-T-A
• MyVariant Identifiers: chr17:g.42452972T>A (hg19) ; chr17:g.44375604T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375604T>A , CM000679.2:g.44375604T>A	GRCh38
NC_000017.10:g.42452972T>A , CM000679.1:g.42452972T>A	GRCh37
NC_000017.9:g.39808498T>A	NCBI36
NG_008331.1:g.18902A>T , LRG_479:g.18902A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2714A>T MANE Select	ENSP00000262407.5:p.Asp905Val
ENST00000648408.1:c.2145A>T
ENST00000262407.5:c.2714A>T	ENSP00000262407.5:p.Asp905Val
ENST00000587295.5:c.253+229A>T
ENST00000592462.5:n.1509A>T
NM_000419.3:c.2714A>T , LRG_479t1:c.2714A>T	NP_000410.2:p.Asp905Val
XM_011524749.1:c.2714A>T	XP_011523051.1:p.Asp905Val
XM_011524750.1:c.2714A>T	XP_011523052.1:p.Asp905Val
NM_000419.4:c.2714A>T	NP_000410.2:p.Asp905Val
NM_000419.5:c.2714A>T MANE Select	NP_000410.2:p.Asp905Val