Canonical Allele Identifier: CA238996361
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs984986356
gnomAD v3: 12-65964547-A-C
gnomAD v4: 12-65964547-A-C
MyVariant Identifiers: chr12:g.66358327A>C (hg19) chr12:g.65964547A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964547A>C , CM000674.2:g.65964547A>C GRCh38
NC_000012.11:g.66358327A>C , CM000674.1:g.66358327A>C GRCh37
NC_000012.10:g.64644594A>C NCBI36
NG_016296.1:g.145088A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1255A>C MANE Select ENSP00000384026.2:n.*1255A>C
ENST00000403681.6:c.*1255A>C ENSP00000384026.2:n.*1255A>C
NM_003483.4:c.*1255A>C NP_003474.1:n.*1255A>C
NM_003483.6:c.*1255A>C MANE Select NP_003474.1:n.*1255A>C
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