Canonical Allele Identifier: CA487516612

Gene: DIO2

Linked Data

• MyVariant Identifiers: chr14:g.80669512A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203169A>C , CM000676.2:g.80203169A>C	GRCh38
NC_000014.8:g.80669512A>C , CM000676.1:g.80669512A>C	GRCh37
NC_000014.7:g.79739265A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.342T>G MANE Select	ENSP00000405854.5:p.Leu114=
ENST00000555750.2:c.*180T>G	ENSP00000450980.2:n.*180T>G
ENST00000422005.7:c.*143T>G	ENSP00000411438.4:n.*143T>G
ENST00000438257.8:c.342T>G	ENSP00000405854.4:p.Leu114=
ENST00000555750.1:c.450T>G	ENSP00000450980.1:p.Leu150=
ENST00000555844.1:c.426T>G
ENST00000556811.5:c.318T>G
ENST00000557010.5:c.342T>G	ENSP00000451419.1:p.Leu114=
ENST00000557125.1:c.49-83T>G	ENSP00000450547.1:n.49-83T>G
NM_000793.5:c.342T>G	NP_000784.2:p.Leu114=
NM_001007023.3:c.450T>G	NP_001007024.1:p.Leu150=
NM_001242502.1:c.*143T>G	NP_001229431.1:n.*143T>G
NM_001242503.1:c.*143T>G	NP_001229432.1:n.*143T>G
NM_013989.4:c.342T>G	NP_054644.1:p.Leu114=
NM_000793.6:c.342T>G	NP_000784.3:p.Leu114=
NM_001324462.2:c.342T>G	NP_001311391.2:p.Leu114=
NM_001366496.1:c.342T>G	NP_001353425.1:p.Leu114=
NM_013989.5:c.342T>G MANE Select	NP_054644.1:p.Leu114=
NR_158990.1:n.482T>G
NR_158991.1:n.616T>G