Canonical Allele Identifier: CA2149670628

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80202972A= , CM000676.2:g.80202972A=	GRCh38
NC_000014.8:g.80669315A= , CM000676.1:g.80669315A=	GRCh37
NC_000014.7:g.79739068A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.539T= MANE Select	ENSP00000405854.5:p.Phe180=
ENST00000555750.2:c.*377T=	ENSP00000450980.2:n.*377T=
ENST00000422005.7:c.*340T=	ENSP00000411438.4:n.*340T=
ENST00000438257.8:c.539T=	ENSP00000405854.4:p.Phe180=
ENST00000555750.1:c.647T=	ENSP00000450980.1:p.Phe216=
ENST00000555844.1:c.623T=
ENST00000556811.5:c.515T=
ENST00000557010.5:c.539T=	ENSP00000451419.1:p.Phe180=
ENST00000557125.1:c.163T=	ENSP00000450547.1:p.Leu55=
NM_000793.5:c.539T=	NP_000784.2:p.Phe180=
NM_001007023.3:c.647T=	NP_001007024.1:p.Phe216=
NM_001242502.1:c.*340T=	NP_001229431.1:n.*340T=
NM_001242503.1:c.*340T=	NP_001229432.1:n.*340T=
NM_013989.4:c.539T=	NP_054644.1:p.Phe180=
NM_000793.6:c.539T=	NP_000784.3:p.Phe180=
NM_001324462.2:c.539T=	NP_001311391.2:p.Phe180=
NM_001366496.1:c.539T=	NP_001353425.1:p.Phe180=
NM_013989.5:c.539T= MANE Select	NP_054644.1:p.Phe180=
NR_158990.1:n.679T=
NR_158991.1:n.813T=