Canonical Allele Identifier: CA2149670803

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203095T= , CM000676.2:g.80203095T=	GRCh38
NC_000014.8:g.80669438T= , CM000676.1:g.80669438T=	GRCh37
NC_000014.7:g.79739191T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.416A= MANE Select	ENSP00000405854.5:p.Gln139=
ENST00000555750.2:c.*254A=	ENSP00000450980.2:n.*254A=
ENST00000422005.7:c.*217A=	ENSP00000411438.4:n.*217A=
ENST00000438257.8:c.416A=	ENSP00000405854.4:p.Gln139=
ENST00000555750.1:c.524A=	ENSP00000450980.1:p.Gln175=
ENST00000555844.1:c.500A=
ENST00000556811.5:c.392A=
ENST00000557010.5:c.416A=	ENSP00000451419.1:p.Gln139=
ENST00000557125.1:c.49-9A=	ENSP00000450547.1:n.49-9A=
NM_000793.5:c.416A=	NP_000784.2:p.Gln139=
NM_001007023.3:c.524A=	NP_001007024.1:p.Gln175=
NM_001242502.1:c.*217A=	NP_001229431.1:n.*217A=
NM_001242503.1:c.*217A=	NP_001229432.1:n.*217A=
NM_013989.4:c.416A=	NP_054644.1:p.Gln139=
NM_000793.6:c.416A=	NP_000784.3:p.Gln139=
NM_001324462.2:c.416A=	NP_001311391.2:p.Gln139=
NM_001366496.1:c.416A=	NP_001353425.1:p.Gln139=
NM_013989.5:c.416A= MANE Select	NP_054644.1:p.Gln139=
NR_158990.1:n.556A=
NR_158991.1:n.690A=