Canonical Allele Identifier: CA2802311595

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203250del , CM000676.2:g.80203250del	GRCh38
NC_000014.8:g.80669593del , CM000676.1:g.80669593del	GRCh37
NC_000014.7:g.79739346del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.261del MANE Select	ENSP00000405854.5:p.His88MetfsTer19
ENST00000555750.2:c.*99del	ENSP00000450980.2:n.*99del
ENST00000422005.7:c.*62del	ENSP00000411438.4:n.*62del
ENST00000438257.8:c.261del	ENSP00000405854.4:p.His88MetfsTer19
ENST00000555750.1:c.369del	ENSP00000450980.1:p.His124MetfsTer19
ENST00000555844.1:c.345del
ENST00000556811.5:c.237del
ENST00000557010.5:c.261del	ENSP00000451419.1:p.His88MetfsTer19
ENST00000557125.1:c.49-164del	ENSP00000450547.1:n.49-164del
NM_000793.5:c.261del	NP_000784.2:p.His88MetfsTer19
NM_001007023.3:c.369del	NP_001007024.1:p.His124MetfsTer19
NM_001242502.1:c.*62del	NP_001229431.1:n.*62del
NM_001242503.1:c.*62del	NP_001229432.1:n.*62del
NM_013989.4:c.261del	NP_054644.1:p.His88MetfsTer19
NM_000793.6:c.261del	NP_000784.3:p.His88MetfsTer19
NM_001324462.2:c.261del	NP_001311391.2:p.His88MetfsTer19
NM_001366496.1:c.261del	NP_001353425.1:p.His88MetfsTer19
NM_013989.5:c.261del MANE Select	NP_054644.1:p.His88MetfsTer19
NR_158990.1:n.401del
NR_158991.1:n.535del