Canonical Allele Identifier: CA238996504
Gene: HMGA2 HGNC NCBI

Linked Data

dbSNP Id: rs941941490
gnomAD v3: 12-65965936-T-C
gnomAD v4: 12-65965936-T-C
MyVariant Identifiers: chr12:g.66359716T>C (hg19) chr12:g.65965936T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65965936T>C , CM000674.2:g.65965936T>C GRCh38
NC_000012.11:g.66359716T>C , CM000674.1:g.66359716T>C GRCh37
NC_000012.10:g.64645983T>C NCBI36
NG_016296.1:g.146477T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403681.7:c.*2644T>C MANE Select ENSP00000384026.2:n.*2644T>C
ENST00000403681.6:c.*2644T>C ENSP00000384026.2:n.*2644T>C
NM_003483.4:c.*2644T>C NP_003474.1:n.*2644T>C
NM_003483.6:c.*2644T>C MANE Select NP_003474.1:n.*2644T>C
Search 100 bp 5'
Search 100 bp 3'