Canonical Allele Identifier: CA812024419

Gene: ITGA2

Linked Data

• dbSNP Id: rs1269524760
• gnomAD v4: 5-53055421-G-A
• MyVariant Identifiers: chr5:g.52351251G>A (hg19) ; chr5:g.53055421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055421G>A , CM000667.2:g.53055421G>A	GRCh38
NC_000005.9:g.52351251G>A , CM000667.1:g.52351251G>A	GRCh37
NC_000005.8:g.52387008G>A	NCBI36
NG_008330.1:g.71096G>A
NG_008330.2:g.71096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.780-117G>A MANE Select	ENSP00000296585.5:n.780-117G>A
ENST00000296585.9:c.780-117G>A	ENSP00000296585.5:n.780-117G>A
ENST00000503810.6:c.*124-117G>A	ENSP00000426489.1:n.*124-117G>A
ENST00000509814.5:c.780-117G>A	ENSP00000424397.1:n.780-117G>A
ENST00000509960.5:c.780-117G>A	ENSP00000424642.1:n.780-117G>A
ENST00000510722.1:c.780-117G>A	ENSP00000422145.1:n.780-117G>A
ENST00000513685.5:c.*494-117G>A	ENSP00000422095.1:n.*494-117G>A
NM_002203.3:c.780-117G>A	NP_002194.2:n.780-117G>A
NR_073103.1:n.923-117G>A
NR_073104.1:n.923-117G>A
NR_073105.1:n.923-117G>A
NR_073106.1:n.923-117G>A
NR_073107.1:n.802-117G>A
NM_002203.4:c.780-117G>A MANE Select	NP_002194.2:n.780-117G>A
NR_073103.2:n.897-117G>A
NR_073104.2:n.897-117G>A
NR_073105.2:n.897-117G>A
NR_073106.2:n.897-117G>A
NR_073107.2:n.776-117G>A