Canonical Allele Identifier: CA264292648
Gene: DIO2 HGNC NCBI
DIO2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs943015169
MyVariant Identifiers: chr14:g.80678269T>G (hg19) chr14:g.80211926T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80211926T>G , CM000676.2:g.80211926T>G GRCh38
NC_000014.8:g.80678269T>G , CM000676.1:g.80678269T>G GRCh37
NC_000014.7:g.79748022T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000553594.1:c.-53-401A>C (DIO2) ENSP00000451265.1:n.-53-401A>C
ENST00000553968.1:c.-146A>C (DIO2) ENSP00000451339.1:n.-146A>C
ENST00000554188.5:c.-53-401A>C (DIO2) ENSP00000451136.1:n.-53-401A>C
ENST00000557010.5:c.-53-401A>C (DIO2) ENSP00000451419.1:n.-53-401A>C
NM_000793.5:c.-53-401A>C (DIO2) NP_000784.2:n.-53-401A>C
NR_038355.1:n.70+438T>G (DIO2-AS1)
NM_000793.6:c.-53-401A>C (DIO2) NP_000784.3:n.-53-401A>C
NM_001324462.2:c.-146A>C (DIO2) NP_001311391.2:n.-146A>C
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