Canonical Allele Identifier: CA3262725
Gene: ITGA2 HGNC NCBI
COSMIC:
COSM3749933 (not active)
COSM3749934 (not active)
MyVariant.info:
GRCh38 chr5:g.53055583G>A
GRCh37 chr5:g.52351413G>A
gnomAD v2:
5:52351413 G / A
gnomAD v3:
5:53055583 G / A
gnomAD v4:
chr5-53055583-G-A
Joint Max Group AF 0.44303705 (AMR)
Genomes Max Group AF 0.4203287 (AMR)
Exomes Max Group AF 0.44860258 (AMR)
ClinVar RCV:
RCV000268212
RCV001613171
ClinVar Variation:
353744
dbSNP:
1062535
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53055583G>A , CM000667.2:g.53055583G>A GRCh38
NC_000005.9:g.52351413G>A , CM000667.1:g.52351413G>A GRCh37
NC_000005.8:g.52387170G>A NCBI36
NG_008330.1:g.71258G>A
NG_008330.2:g.71258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296585.10:c.825G>A MANE Select ENSP00000296585.5:p.Thr275=
ENST00000296585.9:c.825G>A ENSP00000296585.5:p.Thr275=
ENST00000503810.6:c.*169G>A ENSP00000426489.1:n.*169G>A
ENST00000509814.5:c.825G>A ENSP00000424397.1:p.Thr275=
ENST00000509960.5:c.825G>A ENSP00000424642.1:p.Thr275=
ENST00000510722.1:c.825G>A ENSP00000422145.1:p.Thr275=
ENST00000513685.5:c.*539G>A ENSP00000422095.1:n.*539G>A
NM_002203.3:c.825G>A NP_002194.2:p.Thr275=
NR_073103.1:n.968G>A
NR_073104.1:n.968G>A
NR_073105.1:n.968G>A
NR_073106.1:n.968G>A
NR_073107.1:n.847G>A
NM_002203.4:c.825G>A MANE Select NP_002194.2:p.Thr275=
NR_073103.2:n.942G>A
NR_073104.2:n.942G>A
NR_073105.2:n.942G>A
NR_073106.2:n.942G>A
NR_073107.2:n.821G>A
Search 100 bp 5'
Search 100 bp 3'