Canonical Allele Identifier: CA264292663
Gene: DIO2 HGNC NCBI
DIO2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs117085347
gnomAD v2: 14-80678365-T-C
gnomAD v3: 14-80212022-T-C
gnomAD v4: 14-80212022-T-C
MyVariant Identifiers: chr14:g.80678365T>C (hg19) chr14:g.80212022T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80212022T>C , CM000676.2:g.80212022T>C GRCh38
NC_000014.8:g.80678365T>C , CM000676.1:g.80678365T>C GRCh37
NC_000014.7:g.79748118T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000553594.1:c.-53-497A>G (DIO2) ENSP00000451265.1:n.-53-497A>G
ENST00000553968.1:c.-242A>G (DIO2) ENSP00000451339.1:n.-242A>G
ENST00000554188.5:c.-53-497A>G (DIO2) ENSP00000451136.1:n.-53-497A>G
ENST00000557010.5:c.-53-497A>G (DIO2) ENSP00000451419.1:n.-53-497A>G
NM_000793.5:c.-53-497A>G (DIO2) NP_000784.2:n.-53-497A>G
NR_038355.1:n.70+534T>C (DIO2-AS1)
NM_000793.6:c.-53-497A>G (DIO2) NP_000784.3:n.-53-497A>G
NM_001324462.2:c.-242A>G (DIO2) NP_001311391.2:n.-242A>G
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