Canonical Allele Identifier: CA2149669260

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80201758T= , CM000676.2:g.80201758T=	GRCh38
NC_000014.8:g.80668101T= , CM000676.1:g.80668101T=	GRCh37
NC_000014.7:g.79737854T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013989.5:c.*931A= MANE Select	NP_054644.1:n.*931A=
ENST00000438257.9:c.*931A= MANE Select	ENSP00000405854.5:n.*931A=
NM_000793.5:c.*931A=	NP_000784.2:n.*931A=
NM_000793.6:c.*955A=	NP_000784.3:n.*955A=
NM_001007023.3:c.*931A=	NP_001007024.1:n.*931A=
NM_001242502.1:c.*1554A=	NP_001229431.1:n.*1554A=
NM_001242503.1:c.*1554A=	NP_001229432.1:n.*1554A=
NM_001324462.2:c.*955A=	NP_001311391.2:n.*955A=
NM_001366496.1:c.*955A=	NP_001353425.1:n.*955A=
NM_013989.4:c.*931A=	NP_054644.1:n.*931A=
NR_158990.1:n.1893A=
NR_158991.1:n.2027A=
ENST00000422005.7:c.*1554A=	ENSP00000411438.4:n.*1554A=
ENST00000438257.8:c.*931A=	ENSP00000405854.4:n.*931A=
ENST00000557010.5:c.*931A=	ENSP00000451419.1:n.*931A=