Canonical Allele Identifier: CA2149670835

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203121T= , CM000676.2:g.80203121T=	GRCh38
NC_000014.8:g.80669464T= , CM000676.1:g.80669464T=	GRCh37
NC_000014.7:g.79739217T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.390A= MANE Select	ENSP00000405854.5:p.Ser130=
ENST00000555750.2:c.*228A=	ENSP00000450980.2:n.*228A=
ENST00000422005.7:c.*191A=	ENSP00000411438.4:n.*191A=
ENST00000438257.8:c.390A=	ENSP00000405854.4:p.Ser130=
ENST00000555750.1:c.498A=	ENSP00000450980.1:p.Ser166=
ENST00000555844.1:c.474A=
ENST00000556811.5:c.366A=
ENST00000557010.5:c.390A=	ENSP00000451419.1:p.Ser130=
ENST00000557125.1:c.49-35A=	ENSP00000450547.1:n.49-35A=
NM_000793.5:c.390A=	NP_000784.2:p.Ser130=
NM_001007023.3:c.498A=	NP_001007024.1:p.Ser166=
NM_001242502.1:c.*191A=	NP_001229431.1:n.*191A=
NM_001242503.1:c.*191A=	NP_001229432.1:n.*191A=
NM_013989.4:c.390A=	NP_054644.1:p.Ser130=
NM_000793.6:c.390A=	NP_000784.3:p.Ser130=
NM_001324462.2:c.390A=	NP_001311391.2:p.Ser130=
NM_001366496.1:c.390A=	NP_001353425.1:p.Ser130=
NM_013989.5:c.390A= MANE Select	NP_054644.1:p.Ser130=
NR_158990.1:n.530A=
NR_158991.1:n.664A=