Canonical Allele Identifier: CA10624891
Gene: ITGA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 353729
ClinVar RCV Id: RCV000371467
dbSNP Id: rs886060656
gnomAD v4: 5-52989370-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.52989370G>C , CM000667.2:g.52989370G>C GRCh38
NC_000005.9:g.52285200G>C , CM000667.1:g.52285200G>C GRCh37
NC_000005.8:g.52320957G>C NCBI36
NG_008330.1:g.5045G>C
NG_008330.2:g.5045G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296585.10:c.-99G>C MANE Select ENSP00000296585.5:n.-99G>C
ENST00000296585.9:c.-99G>C ENSP00000296585.5:n.-99G>C
ENST00000503810.6:c.-99G>C ENSP00000426489.1:n.-99G>C
NM_002203.3:c.-99G>C NP_002194.2:n.-99G>C
NR_073103.1:n.45G>C
NR_073104.1:n.45G>C
NR_073105.1:n.45G>C
NR_073106.1:n.45G>C
NR_073107.1:n.45G>C
NM_002203.4:c.-99G>C MANE Select NP_002194.2:n.-99G>C
NR_073103.2:n.19G>C
NR_073104.2:n.19G>C
NR_073105.2:n.19G>C
NR_073106.2:n.19G>C
NR_073107.2:n.19G>C