Canonical Allele Identifier: CA2555432936
Gene: HMGA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964530T>C , CM000674.2:g.65964530T>C GRCh38
NC_000012.11:g.66358310T>C , CM000674.1:g.66358310T>C GRCh37
NC_000012.10:g.64644577T>C NCBI36
NG_016296.1:g.145071T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.*1238T>C MANE Select ENSP00000384026.2:n.*1238T>C
ENST00000403681.6:c.*1238T>C ENSP00000384026.2:n.*1238T>C
NM_003483.4:c.*1238T>C NP_003474.1:n.*1238T>C
NM_003483.6:c.*1238T>C MANE Select NP_003474.1:n.*1238T>C