Canonical Allele Identifier: CA2149670799

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203091C= , CM000676.2:g.80203091C=	GRCh38
NC_000014.8:g.80669434C= , CM000676.1:g.80669434C=	GRCh37
NC_000014.7:g.79739187C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.420G= MANE Select	ENSP00000405854.5:p.Leu140=
ENST00000555750.2:c.*258G=	ENSP00000450980.2:n.*258G=
ENST00000422005.7:c.*221G=	ENSP00000411438.4:n.*221G=
ENST00000438257.8:c.420G=	ENSP00000405854.4:p.Leu140=
ENST00000555750.1:c.528G=	ENSP00000450980.1:p.Leu176=
ENST00000555844.1:c.504G=
ENST00000556811.5:c.396G=
ENST00000557010.5:c.420G=	ENSP00000451419.1:p.Leu140=
ENST00000557125.1:c.49-5G=	ENSP00000450547.1:n.49-5G=
NM_000793.5:c.420G=	NP_000784.2:p.Leu140=
NM_001007023.3:c.528G=	NP_001007024.1:p.Leu176=
NM_001242502.1:c.*221G=	NP_001229431.1:n.*221G=
NM_001242503.1:c.*221G=	NP_001229432.1:n.*221G=
NM_013989.4:c.420G=	NP_054644.1:p.Leu140=
NM_000793.6:c.420G=	NP_000784.3:p.Leu140=
NM_001324462.2:c.420G=	NP_001311391.2:p.Leu140=
NM_001366496.1:c.420G=	NP_001353425.1:p.Leu140=
NM_013989.5:c.420G= MANE Select	NP_054644.1:p.Leu140=
NR_158990.1:n.560G=
NR_158991.1:n.694G=