Canonical Allele Identifier: CA399788181

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42451727A>T (hg19) ; chr17:g.44374359A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374359A>T , CM000679.2:g.44374359A>T	GRCh38
NC_000017.10:g.42451727A>T , CM000679.1:g.42451727A>T	GRCh37
NC_000017.9:g.39807253A>T	NCBI36
NG_008331.1:g.20147T>A , LRG_479:g.20147T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.3055T>A MANE Select	ENSP00000262407.5:p.Trp1019Arg
ENST00000648408.1:c.2374+300T>A
ENST00000262407.5:c.3055T>A	ENSP00000262407.5:p.Trp1019Arg
ENST00000587295.5:c.253+1474T>A
ENST00000588098.1:c.37+300T>A
ENST00000592462.5:n.2754T>A
NM_000419.3:c.3055T>A , LRG_479t1:c.3055T>A	NP_000410.2:p.Trp1019Arg
XM_011524749.1:c.2953T>A	XP_011523051.1:p.Trp985Arg
XM_011524750.1:c.2943+300T>A	XP_011523052.1:n.2943+300T>A
NM_000419.4:c.3055T>A	NP_000410.2:p.Trp1019Arg
NM_000419.5:c.3055T>A MANE Select	NP_000410.2:p.Trp1019Arg