Canonical Allele Identifier: CA3262732

Gene: ITGA2

Linked Data

• dbSNP Id: rs769802346
• ExAC: 5:52351483 T / C
• gnomAD v2: 5-52351483-T-C
• gnomAD v4: 5-53055653-T-C
• MyVariant Identifiers: chr5:g.52351483T>C (hg19) ; chr5:g.53055653T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055653T>C , CM000667.2:g.53055653T>C	GRCh38
NC_000005.9:g.52351483T>C , CM000667.1:g.52351483T>C	GRCh37
NC_000005.8:g.52387240T>C	NCBI36
NG_008330.1:g.71328T>C
NG_008330.2:g.71328T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.895T>C MANE Select	ENSP00000296585.5:p.Cys299Arg
ENST00000296585.9:c.895T>C	ENSP00000296585.5:p.Cys299Arg
ENST00000503810.6:c.*239T>C	ENSP00000426489.1:n.*239T>C
ENST00000509814.5:c.895T>C	ENSP00000424397.1:p.Cys299Arg
ENST00000509960.5:c.895T>C	ENSP00000424642.1:p.Cys299Arg
ENST00000510722.1:c.895T>C	ENSP00000422145.1:p.Cys299Arg
ENST00000513685.5:c.*609T>C	ENSP00000422095.1:n.*609T>C
NM_002203.3:c.895T>C	NP_002194.2:p.Cys299Arg
NR_073103.1:n.1038T>C
NR_073104.1:n.1038T>C
NR_073105.1:n.1038T>C
NR_073106.1:n.1038T>C
NR_073107.1:n.917T>C
NM_002203.4:c.895T>C MANE Select	NP_002194.2:p.Cys299Arg
NR_073103.2:n.1012T>C
NR_073104.2:n.1012T>C
NR_073105.2:n.1012T>C
NR_073106.2:n.1012T>C
NR_073107.2:n.891T>C