Canonical Allele Identifier: CA399796665

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42453691T>C (hg19) ; chr17:g.44376323T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44376323T>C , CM000679.2:g.44376323T>C	GRCh38
NC_000017.10:g.42453691T>C , CM000679.1:g.42453691T>C	GRCh37
NC_000017.9:g.39809217T>C	NCBI36
NG_008331.1:g.18183A>G , LRG_479:g.18183A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2333A>G MANE Select	ENSP00000262407.5:p.Gln778Arg
ENST00000648408.1:c.1764A>G
ENST00000262407.5:c.2333A>G	ENSP00000262407.5:p.Gln778Arg
ENST00000592462.5:n.1128A>G
NM_000419.3:c.2333A>G , LRG_479t1:c.2333A>G	NP_000410.2:p.Gln778Arg
XM_011524749.1:c.2333A>G	XP_011523051.1:p.Gln778Arg
XM_011524750.1:c.2333A>G	XP_011523052.1:p.Gln778Arg
NM_000419.4:c.2333A>G	NP_000410.2:p.Gln778Arg
NM_000419.5:c.2333A>G MANE Select	NP_000410.2:p.Gln778Arg