Canonical Allele Identifier: CA10624904
Gene: ITGA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 353777
ClinVar RCV Id: RCV000341254
dbSNP Id: rs886060662

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53081662del , CM000667.2:g.53081662del GRCh38
NC_000005.9:g.52377492del , CM000667.1:g.52377492del GRCh37
NC_000005.8:g.52413249del NCBI36
NG_008330.1:g.97337del
NG_008330.2:g.97337del

Transcript Alleles

HGVS Amino-acid change
ENST00000296585.10:c.3110del MANE Select ENSP00000296585.5:p.Phe1037SerfsTer12
ENST00000296585.9:c.3110del ENSP00000296585.5:p.Phe1037SerfsTer12
ENST00000503810.6:c.*2454del ENSP00000426489.1:n.*2454del
ENST00000509814.5:c.*520del ENSP00000424397.1:n.*520del
ENST00000509960.5:c.*1225del ENSP00000424642.1:n.*1225del
ENST00000510722.1:c.*178del ENSP00000422145.1:n.*178del
ENST00000513685.5:c.*2824del ENSP00000422095.1:n.*2824del
NM_002203.3:c.3110del NP_002194.2:p.Phe1037SerfsTer12
NR_073103.1:n.3150del
NR_073104.1:n.3111del
NR_073105.1:n.3294del
NR_073106.1:n.3253del
NR_073107.1:n.3132del
NM_002203.4:c.3110del MANE Select NP_002194.2:p.Phe1037SerfsTer12
NR_073103.2:n.3124del
NR_073104.2:n.3085del
NR_073105.2:n.3268del
NR_073106.2:n.3227del
NR_073107.2:n.3106del