Canonical Allele Identifier: CA390765344

Gene: DIO2

Linked Data

• MyVariant Identifiers: chr14:g.80669544C>T (hg19) ; chr14:g.80203201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203201C>T , CM000676.2:g.80203201C>T	GRCh38
NC_000014.8:g.80669544C>T , CM000676.1:g.80669544C>T	GRCh37
NC_000014.7:g.79739297C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.310G>A MANE Select	ENSP00000405854.5:p.Glu104Lys
ENST00000555750.2:c.*148G>A	ENSP00000450980.2:n.*148G>A
ENST00000422005.7:c.*111G>A	ENSP00000411438.4:n.*111G>A
ENST00000438257.8:c.310G>A	ENSP00000405854.4:p.Glu104Lys
ENST00000555750.1:c.418G>A	ENSP00000450980.1:p.Glu140Lys
ENST00000555844.1:c.394G>A
ENST00000556811.5:c.286G>A
ENST00000557010.5:c.310G>A	ENSP00000451419.1:p.Glu104Lys
ENST00000557125.1:c.49-115G>A	ENSP00000450547.1:n.49-115G>A
NM_000793.5:c.310G>A	NP_000784.2:p.Glu104Lys
NM_001007023.3:c.418G>A	NP_001007024.1:p.Glu140Lys
NM_001242502.1:c.*111G>A	NP_001229431.1:n.*111G>A
NM_001242503.1:c.*111G>A	NP_001229432.1:n.*111G>A
NM_013989.4:c.310G>A	NP_054644.1:p.Glu104Lys
NM_000793.6:c.310G>A	NP_000784.3:p.Glu104Lys
NM_001324462.2:c.310G>A	NP_001311391.2:p.Glu104Lys
NM_001366496.1:c.310G>A	NP_001353425.1:p.Glu104Lys
NM_013989.5:c.310G>A MANE Select	NP_054644.1:p.Glu104Lys
NR_158990.1:n.450G>A
NR_158991.1:n.584G>A