Canonical Allele Identifier: CA948671999
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1876852157
gnomAD v3: 12-65964523-T-C
gnomAD v4: 12-65964523-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964523T>C , CM000674.2:g.65964523T>C GRCh38
NC_000012.11:g.66358303T>C , CM000674.1:g.66358303T>C GRCh37
NC_000012.10:g.64644570T>C NCBI36
NG_016296.1:g.145064T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1231T>C MANE Select ENSP00000384026.2:n.*1231T>C
ENST00000403681.6:c.*1231T>C ENSP00000384026.2:n.*1231T>C
NM_003483.4:c.*1231T>C NP_003474.1:n.*1231T>C
NM_003483.6:c.*1231T>C MANE Select NP_003474.1:n.*1231T>C
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