Canonical Allele Identifier: CA2840725923

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203242dup , CM000676.2:g.80203242dup	GRCh38
NC_000014.8:g.80669585dup , CM000676.1:g.80669585dup	GRCh37
NC_000014.7:g.79739338dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.270dup MANE Select	ENSP00000405854.5:p.Ser91GlnfsTer6
ENST00000555750.2:c.*108dup	ENSP00000450980.2:n.*108dup
ENST00000422005.7:c.*71dup	ENSP00000411438.4:n.*71dup
ENST00000438257.8:c.270dup	ENSP00000405854.4:p.Ser91GlnfsTer6
ENST00000555750.1:c.378dup	ENSP00000450980.1:p.Ser127GlnfsTer6
ENST00000555844.1:c.354dup
ENST00000556811.5:c.246dup
ENST00000557010.5:c.270dup	ENSP00000451419.1:p.Ser91GlnfsTer6
ENST00000557125.1:c.49-155dup	ENSP00000450547.1:n.49-155dup
NM_000793.5:c.270dup	NP_000784.2:p.Ser91GlnfsTer6
NM_001007023.3:c.378dup	NP_001007024.1:p.Ser127GlnfsTer6
NM_001242502.1:c.*71dup	NP_001229431.1:n.*71dup
NM_001242503.1:c.*71dup	NP_001229432.1:n.*71dup
NM_013989.4:c.270dup	NP_054644.1:p.Ser91GlnfsTer6
NM_000793.6:c.270dup	NP_000784.3:p.Ser91GlnfsTer6
NM_001324462.2:c.270dup	NP_001311391.2:p.Ser91GlnfsTer6
NM_001366496.1:c.270dup	NP_001353425.1:p.Ser91GlnfsTer6
NM_013989.5:c.270dup MANE Select	NP_054644.1:p.Ser91GlnfsTer6
NR_158990.1:n.410dup
NR_158991.1:n.544dup