Canonical Allele Identifier: CA615366317
Gene: DIO2 HGNC NCBI
DIO2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs924478992
gnomAD v2: 14-80678356-GT-G
gnomAD v3: 14-80212013-GT-G
gnomAD v4: 14-80212013-GT-G
MyVariant Identifiers: chr14:g.80678357del (hg19) chr14:g.80212014del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80212025del , CM000676.2:g.80212025del GRCh38
NC_000014.8:g.80678368del , CM000676.1:g.80678368del GRCh37
NC_000014.7:g.79748121del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000553594.1:c.-53-489del (DIO2) ENSP00000451265.1:n.-53-489del
ENST00000553968.1:c.-234del (DIO2) ENSP00000451339.1:n.-234del
ENST00000554188.5:c.-53-489del (DIO2) ENSP00000451136.1:n.-53-489del
ENST00000557010.5:c.-53-489del (DIO2) ENSP00000451419.1:n.-53-489del
NM_000793.5:c.-53-489del (DIO2) NP_000784.2:n.-53-489del
NR_038355.1:n.70+537del (DIO2-AS1)
NM_000793.6:c.-53-489del (DIO2) NP_000784.3:n.-53-489del
NM_001324462.2:c.-234del (DIO2) NP_001311391.2:n.-234del
Search 100 bp 5'
Search 100 bp 3'