Canonical Allele Identifier: CA359684224
Gene: ITGA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53055588T>C , CM000667.2:g.53055588T>C GRCh38
NC_000005.9:g.52351418T>C , CM000667.1:g.52351418T>C GRCh37
NC_000005.8:g.52387175T>C NCBI36
NG_008330.1:g.71263T>C
NG_008330.2:g.71263T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296585.10:c.830T>C MANE Select ENSP00000296585.5:p.Val277Ala
ENST00000296585.9:c.830T>C ENSP00000296585.5:p.Val277Ala
ENST00000503810.6:c.*174T>C ENSP00000426489.1:n.*174T>C
ENST00000509814.5:c.830T>C ENSP00000424397.1:p.Val277Ala
ENST00000509960.5:c.830T>C ENSP00000424642.1:p.Val277Ala
ENST00000510722.1:c.830T>C ENSP00000422145.1:p.Val277Ala
ENST00000513685.5:c.*544T>C ENSP00000422095.1:n.*544T>C
NM_002203.3:c.830T>C NP_002194.2:p.Val277Ala
NR_073103.1:n.973T>C
NR_073104.1:n.973T>C
NR_073105.1:n.973T>C
NR_073106.1:n.973T>C
NR_073107.1:n.852T>C
NM_002203.4:c.830T>C MANE Select NP_002194.2:p.Val277Ala
NR_073103.2:n.947T>C
NR_073104.2:n.947T>C
NR_073105.2:n.947T>C
NR_073106.2:n.947T>C
NR_073107.2:n.826T>C