Canonical Allele Identifier: CA691066153
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1315830267
gnomAD v3: 12-65964448-A-G
gnomAD v4: 12-65964448-A-G
MyVariant Identifiers: chr12:g.66358228A>G (hg19) chr12:g.65964448A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964448A>G , CM000674.2:g.65964448A>G GRCh38
NC_000012.11:g.66358228A>G , CM000674.1:g.66358228A>G GRCh37
NC_000012.10:g.64644495A>G NCBI36
NG_016296.1:g.144989A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.*1156A>G MANE Select ENSP00000384026.2:n.*1156A>G
ENST00000403681.6:c.*1156A>G ENSP00000384026.2:n.*1156A>G
NM_003483.4:c.*1156A>G NP_003474.1:n.*1156A>G
NM_003483.6:c.*1156A>G MANE Select NP_003474.1:n.*1156A>G
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