Canonical Allele Identifier: CA444163387
Gene: ITGA2 HGNC NCBI

Linked Data

gnomAD v4: 5-53055622-T-C
MyVariant Identifiers: chr5:g.52351452T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53055622T>C , CM000667.2:g.53055622T>C GRCh38
NC_000005.9:g.52351452T>C , CM000667.1:g.52351452T>C GRCh37
NC_000005.8:g.52387209T>C NCBI36
NG_008330.1:g.71297T>C
NG_008330.2:g.71297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296585.10:c.864T>C MANE Select ENSP00000296585.5:p.Asp288=
ENST00000296585.9:c.864T>C ENSP00000296585.5:p.Asp288=
ENST00000503810.6:c.*208T>C ENSP00000426489.1:n.*208T>C
ENST00000509814.5:c.864T>C ENSP00000424397.1:p.Asp288=
ENST00000509960.5:c.864T>C ENSP00000424642.1:p.Asp288=
ENST00000510722.1:c.864T>C ENSP00000422145.1:p.Asp288=
ENST00000513685.5:c.*578T>C ENSP00000422095.1:n.*578T>C
NM_002203.3:c.864T>C NP_002194.2:p.Asp288=
NR_073103.1:n.1007T>C
NR_073104.1:n.1007T>C
NR_073105.1:n.1007T>C
NR_073106.1:n.1007T>C
NR_073107.1:n.886T>C
NM_002203.4:c.864T>C MANE Select NP_002194.2:p.Asp288=
NR_073103.2:n.981T>C
NR_073104.2:n.981T>C
NR_073105.2:n.981T>C
NR_073106.2:n.981T>C
NR_073107.2:n.860T>C