Canonical Allele Identifier: CA359684107
Gene: ITGA2 HGNC NCBI

Linked Data

gnomAD v4: 5-53055570-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53055570G>C , CM000667.2:g.53055570G>C GRCh38
NC_000005.9:g.52351400G>C , CM000667.1:g.52351400G>C GRCh37
NC_000005.8:g.52387157G>C NCBI36
NG_008330.1:g.71245G>C
NG_008330.2:g.71245G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296585.10:c.812G>C MANE Select ENSP00000296585.5:p.Arg271Pro
ENST00000296585.9:c.812G>C ENSP00000296585.5:p.Arg271Pro
ENST00000503810.6:c.*156G>C ENSP00000426489.1:n.*156G>C
ENST00000509814.5:c.812G>C ENSP00000424397.1:p.Arg271Pro
ENST00000509960.5:c.812G>C ENSP00000424642.1:p.Arg271Pro
ENST00000510722.1:c.812G>C ENSP00000422145.1:p.Arg271Pro
ENST00000513685.5:c.*526G>C ENSP00000422095.1:n.*526G>C
NM_002203.3:c.812G>C NP_002194.2:p.Arg271Pro
NR_073103.1:n.955G>C
NR_073104.1:n.955G>C
NR_073105.1:n.955G>C
NR_073106.1:n.955G>C
NR_073107.1:n.834G>C
NM_002203.4:c.812G>C MANE Select NP_002194.2:p.Arg271Pro
NR_073103.2:n.929G>C
NR_073104.2:n.929G>C
NR_073105.2:n.929G>C
NR_073106.2:n.929G>C
NR_073107.2:n.808G>C