Canonical Allele Identifier: CA2149679690

Gene: DIO2 DIO2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80211976_80211978delinsCAG , CM000676.2:g.80211976_80211978delinsCAG	GRCh38
NC_000014.8:g.80678319_80678321delinsCAG , CM000676.1:g.80678319_80678321delinsCAG	GRCh37
NC_000014.7:g.79748072_79748074delinsCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553594.1:c.-53-453_-53-451delinsCTG (DIO2)	ENSP00000451265.1:n.-53-453_-53-451delinsCTG
ENST00000553968.1:c.-198_-196delinsCTG (DIO2)	ENSP00000451339.1:n.-198_-196delinsCTG
ENST00000554188.5:c.-53-453_-53-451delinsCTG (DIO2)	ENSP00000451136.1:n.-53-453_-53-451delinsCTG
ENST00000557010.5:c.-53-453_-53-451delinsCTG (DIO2)	ENSP00000451419.1:n.-53-453_-53-451delinsCTG
NM_000793.5:c.-53-453_-53-451delinsCTG (DIO2)	NP_000784.2:n.-53-453_-53-451delinsCTG
NR_038355.1:n.70+488_70+490delinsCAG (DIO2-AS1)
NM_000793.6:c.-53-453_-53-451delinsCTG (DIO2)	NP_000784.3:n.-53-453_-53-451delinsCTG
NM_001324462.2:c.-198_-196delinsCTG (DIO2)	NP_001311391.2:n.-198_-196delinsCTG