Canonical Allele Identifier: CA2149668785

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80201236G= , CM000676.2:g.80201236G=	GRCh38
NC_000014.8:g.80667579G= , CM000676.1:g.80667579G=	GRCh37
NC_000014.7:g.79737332G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013989.5:c.*1453C= MANE Select	NP_054644.1:n.*1453C=
ENST00000438257.9:c.*1453C= MANE Select	ENSP00000405854.5:n.*1453C=
NM_000793.5:c.*1453C=	NP_000784.2:n.*1453C=
NM_000793.6:c.*1477C=	NP_000784.3:n.*1477C=
NM_001007023.3:c.*1453C=	NP_001007024.1:n.*1453C=
NM_001242502.1:c.*2076C=	NP_001229431.1:n.*2076C=
NM_001242503.1:c.*2076C=	NP_001229432.1:n.*2076C=
NM_001324462.2:c.*1477C=	NP_001311391.2:n.*1477C=
NM_001366496.1:c.*1477C=	NP_001353425.1:n.*1477C=
NM_013989.4:c.*1453C=	NP_054644.1:n.*1453C=
NR_158990.1:n.2415C=
NR_158991.1:n.2549C=
ENST00000422005.7:c.*2076C=	ENSP00000411438.4:n.*2076C=
ENST00000438257.8:c.*1453C=	ENSP00000405854.4:n.*1453C=
ENST00000557010.5:c.*1453C=	ENSP00000451419.1:n.*1453C=