Canonical Allele Identifier: CA2149679790
Gene: DIO2 HGNC NCBI
DIO2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80212030C= , CM000676.2:g.80212030C= GRCh38
NC_000014.8:g.80678373C= , CM000676.1:g.80678373C= GRCh37
NC_000014.7:g.79748126C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000553594.1:c.-53-505G= (DIO2) ENSP00000451265.1:n.-53-505G=
ENST00000553968.1:c.-250G= (DIO2) ENSP00000451339.1:n.-250G=
ENST00000554188.5:c.-53-505G= (DIO2) ENSP00000451136.1:n.-53-505G=
ENST00000557010.5:c.-53-505G= (DIO2) ENSP00000451419.1:n.-53-505G=
NM_000793.5:c.-53-505G= (DIO2) NP_000784.2:n.-53-505G=
NR_038355.1:n.70+542C= (DIO2-AS1)
NM_000793.6:c.-53-505G= (DIO2) NP_000784.3:n.-53-505G=
NM_001324462.2:c.-250G= (DIO2) NP_001311391.2:n.-250G=