Canonical Allele Identifier: CA264292647
Gene: DIO2 HGNC NCBI
DIO2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs12885300

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80211923C>G , CM000676.2:g.80211923C>G GRCh38
NC_000014.8:g.80678266C>G , CM000676.1:g.80678266C>G GRCh37
NC_000014.7:g.79748019C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000553594.1:c.-53-398G>C (DIO2) ENSP00000451265.1:n.-53-398G>C
ENST00000553968.1:c.-143G>C (DIO2) ENSP00000451339.1:n.-143G>C
ENST00000554188.5:c.-53-398G>C (DIO2) ENSP00000451136.1:n.-53-398G>C
ENST00000557010.5:c.-53-398G>C (DIO2) ENSP00000451419.1:n.-53-398G>C
NM_000793.5:c.-53-398G>C (DIO2) NP_000784.2:n.-53-398G>C
NR_038355.1:n.70+435C>G (DIO2-AS1)
NM_000793.6:c.-53-398G>C (DIO2) NP_000784.3:n.-53-398G>C
NM_001324462.2:c.-143G>C (DIO2) NP_001311391.2:n.-143G>C