Canonical Allele Identifier: CA965126433

Gene: DIO2 DIO2-AS1

Linked Data

• gnomAD v3: 14-80211980-GTT-G
• gnomAD v4: 14-80211980-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80211993_80211994del , CM000676.2:g.80211993_80211994del	GRCh38
NC_000014.8:g.80678336_80678337del , CM000676.1:g.80678336_80678337del	GRCh37
NC_000014.7:g.79748089_79748090del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553594.1:c.-53-457_-53-456del (DIO2)	ENSP00000451265.1:n.-53-457_-53-456del
ENST00000553968.1:c.-202_-201del (DIO2)	ENSP00000451339.1:n.-202_-201del
ENST00000554188.5:c.-53-457_-53-456del (DIO2)	ENSP00000451136.1:n.-53-457_-53-456del
ENST00000557010.5:c.-53-457_-53-456del (DIO2)	ENSP00000451419.1:n.-53-457_-53-456del
NM_000793.5:c.-53-457_-53-456del (DIO2)	NP_000784.2:n.-53-457_-53-456del
NR_038355.1:n.70+505_70+506del (DIO2-AS1)
NM_000793.6:c.-53-457_-53-456del (DIO2)	NP_000784.3:n.-53-457_-53-456del
NM_001324462.2:c.-202_-201del (DIO2)	NP_001311391.2:n.-202_-201del