Canonical Allele Identifier: CA2149671057

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203269G= , CM000676.2:g.80203269G=	GRCh38
NC_000014.8:g.80669612G= , CM000676.1:g.80669612G=	GRCh37
NC_000014.7:g.79739365G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.242C= MANE Select	ENSP00000405854.5:p.Ala81=
ENST00000555750.2:c.*80C=	ENSP00000450980.2:n.*80C=
ENST00000422005.7:c.*43C=	ENSP00000411438.4:n.*43C=
ENST00000438257.8:c.242C=	ENSP00000405854.4:p.Ala81=
ENST00000555750.1:c.350C=	ENSP00000450980.1:p.Ala117=
ENST00000555844.1:c.326C=
ENST00000556811.5:c.218C=
ENST00000557010.5:c.242C=	ENSP00000451419.1:p.Ala81=
ENST00000557125.1:c.49-183C=	ENSP00000450547.1:n.49-183C=
NM_000793.5:c.242C=	NP_000784.2:p.Ala81=
NM_001007023.3:c.350C=	NP_001007024.1:p.Ala117=
NM_001242502.1:c.*43C=	NP_001229431.1:n.*43C=
NM_001242503.1:c.*43C=	NP_001229432.1:n.*43C=
NM_013989.4:c.242C=	NP_054644.1:p.Ala81=
NM_000793.6:c.242C=	NP_000784.3:p.Ala81=
NM_001324462.2:c.242C=	NP_001311391.2:p.Ala81=
NM_001366496.1:c.242C=	NP_001353425.1:p.Ala81=
NM_013989.5:c.242C= MANE Select	NP_054644.1:p.Ala81=
NR_158990.1:n.382C=
NR_158991.1:n.516C=