Canonical Allele Identifier: CA390765369

Gene: DIO2

Linked Data

• MyVariant Identifiers: chr14:g.80669556T>G (hg19) ; chr14:g.80203213T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203213T>G , CM000676.2:g.80203213T>G	GRCh38
NC_000014.8:g.80669556T>G , CM000676.1:g.80669556T>G	GRCh37
NC_000014.7:g.79739309T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.298A>C MANE Select	ENSP00000405854.5:p.Asn100His
ENST00000555750.2:c.*136A>C	ENSP00000450980.2:n.*136A>C
ENST00000422005.7:c.*99A>C	ENSP00000411438.4:n.*99A>C
ENST00000438257.8:c.298A>C	ENSP00000405854.4:p.Asn100His
ENST00000555750.1:c.406A>C	ENSP00000450980.1:p.Asn136His
ENST00000555844.1:c.382A>C
ENST00000556811.5:c.274A>C
ENST00000557010.5:c.298A>C	ENSP00000451419.1:p.Asn100His
ENST00000557125.1:c.49-127A>C	ENSP00000450547.1:n.49-127A>C
NM_000793.5:c.298A>C	NP_000784.2:p.Asn100His
NM_001007023.3:c.406A>C	NP_001007024.1:p.Asn136His
NM_001242502.1:c.*99A>C	NP_001229431.1:n.*99A>C
NM_001242503.1:c.*99A>C	NP_001229432.1:n.*99A>C
NM_013989.4:c.298A>C	NP_054644.1:p.Asn100His
NM_000793.6:c.298A>C	NP_000784.3:p.Asn100His
NM_001324462.2:c.298A>C	NP_001311391.2:p.Asn100His
NM_001366496.1:c.298A>C	NP_001353425.1:p.Asn100His
NM_013989.5:c.298A>C MANE Select	NP_054644.1:p.Asn100His
NR_158990.1:n.438A>C
NR_158991.1:n.572A>C