Canonical Allele Identifier: CA13623917
Gene: HMGA2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.65965972C>A
GRCh37 chr12:g.66359752C>A
gnomAD v2:
12:66359752 C / A
gnomAD v3:
12:65965972 C / A
gnomAD v4:
chr12-65965972-C-A
Joint Max Group AF 0.8645389 (EAS)
Genomes Max Group AF 0.87762279 (EAS)
Exomes Max Group AF 0.85002332 (EAS)
dbSNP:
8756
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65965972C>A , CM000674.2:g.65965972C>A GRCh38
NC_000012.11:g.66359752C>A , CM000674.1:g.66359752C>A GRCh37
NC_000012.10:g.64646019C>A NCBI36
NG_016296.1:g.146513C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*2680C>A MANE Select ENSP00000384026.2:n.*2680C>A
ENST00000403681.6:c.*2680C>A ENSP00000384026.2:n.*2680C>A
NM_003483.4:c.*2680C>A NP_003474.1:n.*2680C>A
NM_003483.6:c.*2680C>A MANE Select NP_003474.1:n.*2680C>A
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