Canonical Allele Identifier: CA2619690391
Gene: HMGA2 HGNC NCBI

Linked Data

gnomAD v4: 12-65964516-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964516C>A , CM000674.2:g.65964516C>A GRCh38
NC_000012.11:g.66358296C>A , CM000674.1:g.66358296C>A GRCh37
NC_000012.10:g.64644563C>A NCBI36
NG_016296.1:g.145057C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1224C>A MANE Select ENSP00000384026.2:n.*1224C>A
ENST00000403681.6:c.*1224C>A ENSP00000384026.2:n.*1224C>A
NM_003483.4:c.*1224C>A NP_003474.1:n.*1224C>A
NM_003483.6:c.*1224C>A MANE Select NP_003474.1:n.*1224C>A
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