Canonical Allele Identifier: CA2149670738

Gene: DIO2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203055_80203058delinsTGAG , CM000676.2:g.80203055_80203058delinsTGAG	GRCh38
NC_000014.8:g.80669398_80669401delinsTGAG , CM000676.1:g.80669398_80669401delinsTGAG	GRCh37
NC_000014.7:g.79739151_79739154delinsTGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438257.9:c.453_456delinsCTCA MANE Select	ENSP00000405854.5:p.Ser151=
ENST00000555750.2:c.*291_*294delinsCTCA	ENSP00000450980.2:n.*291_*294delinsCTCA
ENST00000422005.7:c.*254_*257delinsCTCA	ENSP00000411438.4:n.*254_*257delinsCTCA
ENST00000438257.8:c.453_456delinsCTCA	ENSP00000405854.4:p.Ser151=
ENST00000555750.1:c.561_564delinsCTCA	ENSP00000450980.1:p.Ser187=
ENST00000555844.1:c.537_540delinsCTCA
ENST00000556811.5:c.429_432delinsCTCA
ENST00000557010.5:c.453_456delinsCTCA	ENSP00000451419.1:p.Ser151=
ENST00000557125.1:c.77_80delinsCTCA	ENSP00000450547.1:p.Pro26=
NM_000793.5:c.453_456delinsCTCA	NP_000784.2:p.Ser151=
NM_001007023.3:c.561_564delinsCTCA	NP_001007024.1:p.Ser187=
NM_001242502.1:c.*254_*257delinsCTCA	NP_001229431.1:n.*254_*257delinsCTCA
NM_001242503.1:c.*254_*257delinsCTCA	NP_001229432.1:n.*254_*257delinsCTCA
NM_013989.4:c.453_456delinsCTCA	NP_054644.1:p.Ser151=
NM_000793.6:c.453_456delinsCTCA	NP_000784.3:p.Ser151=
NM_001324462.2:c.453_456delinsCTCA	NP_001311391.2:p.Ser151=
NM_001366496.1:c.453_456delinsCTCA	NP_001353425.1:p.Ser151=
NM_013989.5:c.453_456delinsCTCA MANE Select	NP_054644.1:p.Ser151=
NR_158990.1:n.593_596delinsCTCA
NR_158991.1:n.727_730delinsCTCA