Canonical Allele Identifier: CA399788179

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44374359-A-G
• MyVariant Identifiers: chr17:g.42451727A>G (hg19) ; chr17:g.44374359A>G (hg38)

Genomic Alleles

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

Transcript Alleles

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