Canonical Allele Identifier: CA399798969

Gene: ITGA2B

Linked Data

• COSMIC: COSM5659127
• MyVariant Identifiers: chr17:g.42455097T>G (hg19) ; chr17:g.44377729T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44377729T>G , CM000679.2:g.44377729T>G	GRCh38
NC_000017.10:g.42455097T>G , CM000679.1:g.42455097T>G	GRCh37
NC_000017.9:g.39810623T>G	NCBI36
NG_008331.1:g.16777A>C , LRG_479:g.16777A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2156A>C MANE Select	ENSP00000262407.5:p.Glu719Ala
ENST00000648408.1:c.1587A>C
ENST00000262407.5:c.2156A>C	ENSP00000262407.5:p.Glu719Ala
ENST00000592462.5:n.951A>C
NM_000419.3:c.2156A>C , LRG_479t1:c.2156A>C	NP_000410.2:p.Glu719Ala
XM_011524749.1:c.2156A>C	XP_011523051.1:p.Glu719Ala
XM_011524750.1:c.2156A>C	XP_011523052.1:p.Glu719Ala
NM_000419.4:c.2156A>C	NP_000410.2:p.Glu719Ala
NM_000419.5:c.2156A>C MANE Select	NP_000410.2:p.Glu719Ala