Canonical Allele Identifier: CA390765275
Gene: DIO2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80203171G>A , CM000676.2:g.80203171G>A GRCh38
NC_000014.8:g.80669514G>A , CM000676.1:g.80669514G>A GRCh37
NC_000014.7:g.79739267G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000438257.9:c.340C>T MANE Select ENSP00000405854.5:p.Leu114Phe
ENST00000555750.2:c.*178C>T ENSP00000450980.2:n.*178C>T
ENST00000422005.7:c.*141C>T ENSP00000411438.4:n.*141C>T
ENST00000438257.8:c.340C>T ENSP00000405854.4:p.Leu114Phe
ENST00000555750.1:c.448C>T ENSP00000450980.1:p.Leu150Phe
ENST00000555844.1:c.424C>T
ENST00000556811.5:c.316C>T
ENST00000557010.5:c.340C>T ENSP00000451419.1:p.Leu114Phe
ENST00000557125.1:c.49-85C>T ENSP00000450547.1:n.49-85C>T
NM_000793.5:c.340C>T NP_000784.2:p.Leu114Phe
NM_001007023.3:c.448C>T NP_001007024.1:p.Leu150Phe
NM_001242502.1:c.*141C>T NP_001229431.1:n.*141C>T
NM_001242503.1:c.*141C>T NP_001229432.1:n.*141C>T
NM_013989.4:c.340C>T NP_054644.1:p.Leu114Phe
NM_000793.6:c.340C>T NP_000784.3:p.Leu114Phe
NM_001324462.2:c.340C>T NP_001311391.2:p.Leu114Phe
NM_001366496.1:c.340C>T NP_001353425.1:p.Leu114Phe
NM_013989.5:c.340C>T MANE Select NP_054644.1:p.Leu114Phe
NR_158990.1:n.480C>T
NR_158991.1:n.614C>T