Canonical Allele Identifier: CA390765188

Gene: DIO2

Linked Data

• MyVariant Identifiers: chr14:g.80669471A>C (hg19) ; chr14:g.80203128A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203128A>C , CM000676.2:g.80203128A>C	GRCh38
NC_000014.8:g.80669471A>C , CM000676.1:g.80669471A>C	GRCh37
NC_000014.7:g.79739224A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.383T>G MANE Select	ENSP00000405854.5:p.Phe128Cys
ENST00000555750.2:c.*221T>G	ENSP00000450980.2:n.*221T>G
ENST00000422005.7:c.*184T>G	ENSP00000411438.4:n.*184T>G
ENST00000438257.8:c.383T>G	ENSP00000405854.4:p.Phe128Cys
ENST00000555750.1:c.491T>G	ENSP00000450980.1:p.Phe164Cys
ENST00000555844.1:c.467T>G
ENST00000556811.5:c.359T>G
ENST00000557010.5:c.383T>G	ENSP00000451419.1:p.Phe128Cys
ENST00000557125.1:c.49-42T>G	ENSP00000450547.1:n.49-42T>G
NM_000793.5:c.383T>G	NP_000784.2:p.Phe128Cys
NM_001007023.3:c.491T>G	NP_001007024.1:p.Phe164Cys
NM_001242502.1:c.*184T>G	NP_001229431.1:n.*184T>G
NM_001242503.1:c.*184T>G	NP_001229432.1:n.*184T>G
NM_013989.4:c.383T>G	NP_054644.1:p.Phe128Cys
NM_000793.6:c.383T>G	NP_000784.3:p.Phe128Cys
NM_001324462.2:c.383T>G	NP_001311391.2:p.Phe128Cys
NM_001366496.1:c.383T>G	NP_001353425.1:p.Phe128Cys
NM_013989.5:c.383T>G MANE Select	NP_054644.1:p.Phe128Cys
NR_158990.1:n.523T>G
NR_158991.1:n.657T>G