Canonical Allele Identifier: CA965126329

Gene: DIO2 DIO2-AS1

Linked Data

• dbSNP Id: rs1888223325
• gnomAD v3: 14-80211941-C-G
• gnomAD v4: 14-80211941-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80211941C>G , CM000676.2:g.80211941C>G	GRCh38
NC_000014.8:g.80678284C>G , CM000676.1:g.80678284C>G	GRCh37
NC_000014.7:g.79748037C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553594.1:c.-53-416G>C (DIO2)	ENSP00000451265.1:n.-53-416G>C
ENST00000553968.1:c.-161G>C (DIO2)	ENSP00000451339.1:n.-161G>C
ENST00000554188.5:c.-53-416G>C (DIO2)	ENSP00000451136.1:n.-53-416G>C
ENST00000557010.5:c.-53-416G>C (DIO2)	ENSP00000451419.1:n.-53-416G>C
NM_000793.5:c.-53-416G>C (DIO2)	NP_000784.2:n.-53-416G>C
NR_038355.1:n.70+453C>G (DIO2-AS1)
NM_000793.6:c.-53-416G>C (DIO2)	NP_000784.3:n.-53-416G>C
NM_001324462.2:c.-161G>C (DIO2)	NP_001311391.2:n.-161G>C