Canonical Allele Identifier: CA390765282

Gene: DIO2

Linked Data

• dbSNP Id: rs1887809869
• gnomAD v3: 14-80203174-G-A
• gnomAD v4: 14-80203174-G-A
• MyVariant Identifiers: chr14:g.80669517G>A (hg19) ; chr14:g.80203174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203174G>A , CM000676.2:g.80203174G>A	GRCh38
NC_000014.8:g.80669517G>A , CM000676.1:g.80669517G>A	GRCh37
NC_000014.7:g.79739270G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.337C>T MANE Select	ENSP00000405854.5:p.His113Tyr
ENST00000555750.2:c.*175C>T	ENSP00000450980.2:n.*175C>T
ENST00000422005.7:c.*138C>T	ENSP00000411438.4:n.*138C>T
ENST00000438257.8:c.337C>T	ENSP00000405854.4:p.His113Tyr
ENST00000555750.1:c.445C>T	ENSP00000450980.1:p.His149Tyr
ENST00000555844.1:c.421C>T
ENST00000556811.5:c.313C>T
ENST00000557010.5:c.337C>T	ENSP00000451419.1:p.His113Tyr
ENST00000557125.1:c.49-88C>T	ENSP00000450547.1:n.49-88C>T
NM_000793.5:c.337C>T	NP_000784.2:p.His113Tyr
NM_001007023.3:c.445C>T	NP_001007024.1:p.His149Tyr
NM_001242502.1:c.*138C>T	NP_001229431.1:n.*138C>T
NM_001242503.1:c.*138C>T	NP_001229432.1:n.*138C>T
NM_013989.4:c.337C>T	NP_054644.1:p.His113Tyr
NM_000793.6:c.337C>T	NP_000784.3:p.His113Tyr
NM_001324462.2:c.337C>T	NP_001311391.2:p.His113Tyr
NM_001366496.1:c.337C>T	NP_001353425.1:p.His113Tyr
NM_013989.5:c.337C>T MANE Select	NP_054644.1:p.His113Tyr
NR_158990.1:n.477C>T
NR_158991.1:n.611C>T