Canonical Allele Identifier: CA238996336
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs149062521
gnomAD v3: 12-65964395-C-T
gnomAD v4: 12-65964395-C-T
MyVariant Identifiers: chr12:g.66358175C>T (hg19) chr12:g.65964395C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65964395C>T , CM000674.2:g.65964395C>T GRCh38
NC_000012.11:g.66358175C>T , CM000674.1:g.66358175C>T GRCh37
NC_000012.10:g.64644442C>T NCBI36
NG_016296.1:g.144936C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.*1103C>T MANE Select ENSP00000384026.2:n.*1103C>T
ENST00000403681.6:c.*1103C>T ENSP00000384026.2:n.*1103C>T
NM_003483.4:c.*1103C>T NP_003474.1:n.*1103C>T
NM_003483.6:c.*1103C>T MANE Select NP_003474.1:n.*1103C>T
Search 100 bp 5'
Search 100 bp 3'