Canonical Allele Identifier: CA13689670
Gene: HMGA2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.65964567C>T
GRCh37 chr12:g.66358347C>T
gnomAD v2:
12:66358347 C / T
gnomAD v3:
12:65964567 C / T
gnomAD v4:
chr12-65964567-C-T
Joint Max Group AF 0.74616374 (EAS)
Genomes Max Group AF 0.78996091 (EAS)
Exomes Max Group AF 0.7142517 (EAS)
dbSNP:
1042725
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964567C>T , CM000674.2:g.65964567C>T GRCh38
NC_000012.11:g.66358347C>T , CM000674.1:g.66358347C>T GRCh37
NC_000012.10:g.64644614C>T NCBI36
NG_016296.1:g.145108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1275C>T MANE Select ENSP00000384026.2:n.*1275C>T
ENST00000403681.6:c.*1275C>T ENSP00000384026.2:n.*1275C>T
NM_003483.4:c.*1275C>T NP_003474.1:n.*1275C>T
NM_003483.6:c.*1275C>T MANE Select NP_003474.1:n.*1275C>T
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