Canonical Allele Identifier: CA2565422417

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203193_80203194insCC , CM000676.2:g.80203193_80203194insCC	GRCh38
NC_000014.8:g.80669536_80669537insCC , CM000676.1:g.80669536_80669537insCC	GRCh37
NC_000014.7:g.79739289_79739290insCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.317_318insGG MANE Select	ENSP00000405854.5:p.Ile106MetfsTer20
ENST00000555750.2:c.*155_*156insGG	ENSP00000450980.2:n.*155_*156insGG
ENST00000422005.7:c.*118_*119insGG	ENSP00000411438.4:n.*118_*119insGG
ENST00000438257.8:c.317_318insGG	ENSP00000405854.4:p.Ile106MetfsTer20
ENST00000555750.1:c.425_426insGG	ENSP00000450980.1:p.Ile142MetfsTer20
ENST00000555844.1:c.401_402insGG
ENST00000556811.5:c.293_294insGG
ENST00000557010.5:c.317_318insGG	ENSP00000451419.1:p.Ile106MetfsTer20
ENST00000557125.1:c.49-108_49-107insGG	ENSP00000450547.1:n.49-108_49-107insGG
NM_000793.5:c.317_318insGG	NP_000784.2:p.Ile106MetfsTer20
NM_001007023.3:c.425_426insGG	NP_001007024.1:p.Ile142MetfsTer20
NM_001242502.1:c.*118_*119insGG	NP_001229431.1:n.*118_*119insGG
NM_001242503.1:c.*118_*119insGG	NP_001229432.1:n.*118_*119insGG
NM_013989.4:c.317_318insGG	NP_054644.1:p.Ile106MetfsTer20
NM_000793.6:c.317_318insGG	NP_000784.3:p.Ile106MetfsTer20
NM_001324462.2:c.317_318insGG	NP_001311391.2:p.Ile106MetfsTer20
NM_001366496.1:c.317_318insGG	NP_001353425.1:p.Ile106MetfsTer20
NM_013989.5:c.317_318insGG MANE Select	NP_054644.1:p.Ile106MetfsTer20
NR_158990.1:n.457_458insGG
NR_158991.1:n.591_592insGG