Canonical Allele Identifier: CA359684297

Gene: ITGA2

Linked Data

• MyVariant Identifiers: chr5:g.52351426G>C (hg19) ; chr5:g.53055596G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055596G>C , CM000667.2:g.53055596G>C	GRCh38
NC_000005.9:g.52351426G>C , CM000667.1:g.52351426G>C	GRCh37
NC_000005.8:g.52387183G>C	NCBI36
NG_008330.1:g.71271G>C
NG_008330.2:g.71271G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296585.10:c.838G>C MANE Select	ENSP00000296585.5:p.Val280Leu
ENST00000296585.9:c.838G>C	ENSP00000296585.5:p.Val280Leu
ENST00000503810.6:c.*182G>C	ENSP00000426489.1:n.*182G>C
ENST00000509814.5:c.838G>C	ENSP00000424397.1:p.Val280Leu
ENST00000509960.5:c.838G>C	ENSP00000424642.1:p.Val280Leu
ENST00000510722.1:c.838G>C	ENSP00000422145.1:p.Val280Leu
ENST00000513685.5:c.*552G>C	ENSP00000422095.1:n.*552G>C
NM_002203.3:c.838G>C	NP_002194.2:p.Val280Leu
NR_073103.1:n.981G>C
NR_073104.1:n.981G>C
NR_073105.1:n.981G>C
NR_073106.1:n.981G>C
NR_073107.1:n.860G>C
NM_002203.4:c.838G>C MANE Select	NP_002194.2:p.Val280Leu
NR_073103.2:n.955G>C
NR_073104.2:n.955G>C
NR_073105.2:n.955G>C
NR_073106.2:n.955G>C
NR_073107.2:n.834G>C