Canonical Allele Identifier: CA2149670911

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203182G= , CM000676.2:g.80203182G=	GRCh38
NC_000014.8:g.80669525G= , CM000676.1:g.80669525G=	GRCh37
NC_000014.7:g.79739278G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.329C= MANE Select	ENSP00000405854.5:p.Ala110=
ENST00000555750.2:c.*167C=	ENSP00000450980.2:n.*167C=
ENST00000422005.7:c.*130C=	ENSP00000411438.4:n.*130C=
ENST00000438257.8:c.329C=	ENSP00000405854.4:p.Ala110=
ENST00000555750.1:c.437C=	ENSP00000450980.1:p.Ala146=
ENST00000555844.1:c.413C=
ENST00000556811.5:c.305C=
ENST00000557010.5:c.329C=	ENSP00000451419.1:p.Ala110=
ENST00000557125.1:c.49-96C=	ENSP00000450547.1:n.49-96C=
NM_000793.5:c.329C=	NP_000784.2:p.Ala110=
NM_001007023.3:c.437C=	NP_001007024.1:p.Ala146=
NM_001242502.1:c.*130C=	NP_001229431.1:n.*130C=
NM_001242503.1:c.*130C=	NP_001229432.1:n.*130C=
NM_013989.4:c.329C=	NP_054644.1:p.Ala110=
NM_000793.6:c.329C=	NP_000784.3:p.Ala110=
NM_001324462.2:c.329C=	NP_001311391.2:p.Ala110=
NM_001366496.1:c.329C=	NP_001353425.1:p.Ala110=
NM_013989.5:c.329C= MANE Select	NP_054644.1:p.Ala110=
NR_158990.1:n.469C=
NR_158991.1:n.603C=