Canonical Allele Identifier: CA2619690370
Gene: HMGA2 HGNC NCBI

Linked Data

gnomAD v4: 12-65964418-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964418G>T , CM000674.2:g.65964418G>T GRCh38
NC_000012.11:g.66358198G>T , CM000674.1:g.66358198G>T GRCh37
NC_000012.10:g.64644465G>T NCBI36
NG_016296.1:g.144959G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1126G>T MANE Select ENSP00000384026.2:n.*1126G>T
ENST00000403681.6:c.*1126G>T ENSP00000384026.2:n.*1126G>T
NM_003483.4:c.*1126G>T NP_003474.1:n.*1126G>T
NM_003483.6:c.*1126G>T MANE Select NP_003474.1:n.*1126G>T
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