Canonical Allele Identifier: CA2518600121
Gene: HMGA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964540A>G , CM000674.2:g.65964540A>G GRCh38
NC_000012.11:g.66358320A>G , CM000674.1:g.66358320A>G GRCh37
NC_000012.10:g.64644587A>G NCBI36
NG_016296.1:g.145081A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1248A>G MANE Select ENSP00000384026.2:n.*1248A>G
ENST00000403681.6:c.*1248A>G ENSP00000384026.2:n.*1248A>G
NM_003483.4:c.*1248A>G NP_003474.1:n.*1248A>G
NM_003483.6:c.*1248A>G MANE Select NP_003474.1:n.*1248A>G