Canonical Allele Identifier: CA359684291

Gene: ITGA2

Linked Data

• MyVariant Identifiers: chr5:g.52351424T>C (hg19) ; chr5:g.53055594T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055594T>C , CM000667.2:g.53055594T>C	GRCh38
NC_000005.9:g.52351424T>C , CM000667.1:g.52351424T>C	GRCh37
NC_000005.8:g.52387181T>C	NCBI36
NG_008330.1:g.71269T>C
NG_008330.2:g.71269T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296585.10:c.836T>C MANE Select	ENSP00000296585.5:p.Val279Ala
ENST00000296585.9:c.836T>C	ENSP00000296585.5:p.Val279Ala
ENST00000503810.6:c.*180T>C	ENSP00000426489.1:n.*180T>C
ENST00000509814.5:c.836T>C	ENSP00000424397.1:p.Val279Ala
ENST00000509960.5:c.836T>C	ENSP00000424642.1:p.Val279Ala
ENST00000510722.1:c.836T>C	ENSP00000422145.1:p.Val279Ala
ENST00000513685.5:c.*550T>C	ENSP00000422095.1:n.*550T>C
NM_002203.3:c.836T>C	NP_002194.2:p.Val279Ala
NR_073103.1:n.979T>C
NR_073104.1:n.979T>C
NR_073105.1:n.979T>C
NR_073106.1:n.979T>C
NR_073107.1:n.858T>C
NM_002203.4:c.836T>C MANE Select	NP_002194.2:p.Val279Ala
NR_073103.2:n.953T>C
NR_073104.2:n.953T>C
NR_073105.2:n.953T>C
NR_073106.2:n.953T>C
NR_073107.2:n.832T>C