Canonical Allele Identifier: CA2625916791
Gene: DIO2 HGNC NCBI
DIO2-AS1 HGNC NCBI

Linked Data

gnomAD v4: 14-80211934-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80211934C>T , CM000676.2:g.80211934C>T GRCh38
NC_000014.8:g.80678277C>T , CM000676.1:g.80678277C>T GRCh37
NC_000014.7:g.79748030C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000553594.1:c.-53-409G>A (DIO2) ENSP00000451265.1:n.-53-409G>A
ENST00000553968.1:c.-154G>A (DIO2) ENSP00000451339.1:n.-154G>A
ENST00000554188.5:c.-53-409G>A (DIO2) ENSP00000451136.1:n.-53-409G>A
ENST00000557010.5:c.-53-409G>A (DIO2) ENSP00000451419.1:n.-53-409G>A
NM_000793.5:c.-53-409G>A (DIO2) NP_000784.2:n.-53-409G>A
NR_038355.1:n.70+446C>T (DIO2-AS1)
NM_000793.6:c.-53-409G>A (DIO2) NP_000784.3:n.-53-409G>A
NM_001324462.2:c.-154G>A (DIO2) NP_001311391.2:n.-154G>A
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