Canonical Allele Identifier: CA691066139
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1392175749
gnomAD v3: 12-65964424-C-A
gnomAD v4: 12-65964424-C-A
MyVariant Identifiers: chr12:g.66358204C>A (hg19) chr12:g.65964424C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964424C>A , CM000674.2:g.65964424C>A GRCh38
NC_000012.11:g.66358204C>A , CM000674.1:g.66358204C>A GRCh37
NC_000012.10:g.64644471C>A NCBI36
NG_016296.1:g.144965C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1132C>A MANE Select ENSP00000384026.2:n.*1132C>A
ENST00000403681.6:c.*1132C>A ENSP00000384026.2:n.*1132C>A
NM_003483.4:c.*1132C>A NP_003474.1:n.*1132C>A
NM_003483.6:c.*1132C>A MANE Select NP_003474.1:n.*1132C>A
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