Canonical Allele Identifier: CA605680897
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs1191978790
gnomAD v2: 12-66358415-T-G
gnomAD v3: 12-65964635-T-G
gnomAD v4: 12-65964635-T-G
MyVariant Identifiers: chr12:g.66358415T>G (hg19) chr12:g.65964635T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964635T>G , CM000674.2:g.65964635T>G GRCh38
NC_000012.11:g.66358415T>G , CM000674.1:g.66358415T>G GRCh37
NC_000012.10:g.64644682T>G NCBI36
NG_016296.1:g.145176T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.*1343T>G MANE Select ENSP00000384026.2:n.*1343T>G
ENST00000403681.6:c.*1343T>G ENSP00000384026.2:n.*1343T>G
NM_003483.4:c.*1343T>G NP_003474.1:n.*1343T>G
NM_003483.6:c.*1343T>G MANE Select NP_003474.1:n.*1343T>G
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