Canonical Allele Identifier: CA2625915507

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203101-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203102dup , CM000676.2:g.80203102dup	GRCh38
NC_000014.8:g.80669445dup , CM000676.1:g.80669445dup	GRCh37
NC_000014.7:g.79739198dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.409dup MANE Select	ENSP00000405854.5:p.Thr137AsnfsTer19
ENST00000555750.2:c.*247dup	ENSP00000450980.2:n.*247dup
ENST00000422005.7:c.*210dup	ENSP00000411438.4:n.*210dup
ENST00000438257.8:c.409dup	ENSP00000405854.4:p.Thr137AsnfsTer19
ENST00000555750.1:c.517dup	ENSP00000450980.1:p.Thr173AsnfsTer19
ENST00000555844.1:c.493dup
ENST00000556811.5:c.385dup
ENST00000557010.5:c.409dup	ENSP00000451419.1:p.Thr137AsnfsTer19
ENST00000557125.1:c.49-16dup	ENSP00000450547.1:n.49-16dup
NM_000793.5:c.409dup	NP_000784.2:p.Thr137AsnfsTer19
NM_001007023.3:c.517dup	NP_001007024.1:p.Thr173AsnfsTer19
NM_001242502.1:c.*210dup	NP_001229431.1:n.*210dup
NM_001242503.1:c.*210dup	NP_001229432.1:n.*210dup
NM_013989.4:c.409dup	NP_054644.1:p.Thr137AsnfsTer19
NM_000793.6:c.409dup	NP_000784.3:p.Thr137AsnfsTer19
NM_001324462.2:c.409dup	NP_001311391.2:p.Thr137AsnfsTer19
NM_001366496.1:c.409dup	NP_001353425.1:p.Thr137AsnfsTer19
NM_013989.5:c.409dup MANE Select	NP_054644.1:p.Thr137AsnfsTer19
NR_158990.1:n.549dup
NR_158991.1:n.683dup