Canonical Allele Identifier: CA390765424

Gene: DIO2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203238A>T , CM000676.2:g.80203238A>T	GRCh38
NC_000014.8:g.80669581A>T , CM000676.1:g.80669581A>T	GRCh37
NC_000014.7:g.79739334A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.273T>A MANE Select	ENSP00000405854.5:p.Ser91Arg
ENST00000555750.2:c.*111T>A	ENSP00000450980.2:n.*111T>A
ENST00000422005.7:c.*74T>A	ENSP00000411438.4:n.*74T>A
ENST00000438257.8:c.273T>A	ENSP00000405854.4:p.Ser91Arg
ENST00000555750.1:c.381T>A	ENSP00000450980.1:p.Ser127Arg
ENST00000555844.1:c.357T>A
ENST00000556811.5:c.249T>A
ENST00000557010.5:c.273T>A	ENSP00000451419.1:p.Ser91Arg
ENST00000557125.1:c.49-152T>A	ENSP00000450547.1:n.49-152T>A
NM_000793.5:c.273T>A	NP_000784.2:p.Ser91Arg
NM_001007023.3:c.381T>A	NP_001007024.1:p.Ser127Arg
NM_001242502.1:c.*74T>A	NP_001229431.1:n.*74T>A
NM_001242503.1:c.*74T>A	NP_001229432.1:n.*74T>A
NM_013989.4:c.273T>A	NP_054644.1:p.Ser91Arg
NM_000793.6:c.273T>A	NP_000784.3:p.Ser91Arg
NM_001324462.2:c.273T>A	NP_001311391.2:p.Ser91Arg
NM_001366496.1:c.273T>A	NP_001353425.1:p.Ser91Arg
NM_013989.5:c.273T>A MANE Select	NP_054644.1:p.Ser91Arg
NR_158990.1:n.413T>A
NR_158991.1:n.547T>A