Canonical Allele Identifier: CA965126332

Gene: DIO2 DIO2-AS1

Linked Data

• dbSNP Id: rs1888223497
• gnomAD v3: 14-80211946-T-C
• gnomAD v4: 14-80211946-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80211946T>C , CM000676.2:g.80211946T>C	GRCh38
NC_000014.8:g.80678289T>C , CM000676.1:g.80678289T>C	GRCh37
NC_000014.7:g.79748042T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000553594.1:c.-53-421A>G (DIO2)	ENSP00000451265.1:n.-53-421A>G
ENST00000553968.1:c.-166A>G (DIO2)	ENSP00000451339.1:n.-166A>G
ENST00000554188.5:c.-53-421A>G (DIO2)	ENSP00000451136.1:n.-53-421A>G
ENST00000557010.5:c.-53-421A>G (DIO2)	ENSP00000451419.1:n.-53-421A>G
NM_000793.5:c.-53-421A>G (DIO2)	NP_000784.2:n.-53-421A>G
NR_038355.1:n.70+458T>C (DIO2-AS1)
NM_000793.6:c.-53-421A>G (DIO2)	NP_000784.3:n.-53-421A>G
NM_001324462.2:c.-166A>G (DIO2)	NP_001311391.2:n.-166A>G