Canonical Allele Identifier: CA487516903

Gene: DIO2

Linked Data

• MyVariant Identifiers: chr14:g.80669464T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203121T>G , CM000676.2:g.80203121T>G	GRCh38
NC_000014.8:g.80669464T>G , CM000676.1:g.80669464T>G	GRCh37
NC_000014.7:g.79739217T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.390A>C MANE Select	ENSP00000405854.5:p.Ser130=
ENST00000555750.2:c.*228A>C	ENSP00000450980.2:n.*228A>C
ENST00000422005.7:c.*191A>C	ENSP00000411438.4:n.*191A>C
ENST00000438257.8:c.390A>C	ENSP00000405854.4:p.Ser130=
ENST00000555750.1:c.498A>C	ENSP00000450980.1:p.Ser166=
ENST00000555844.1:c.474A>C
ENST00000556811.5:c.366A>C
ENST00000557010.5:c.390A>C	ENSP00000451419.1:p.Ser130=
ENST00000557125.1:c.49-35A>C	ENSP00000450547.1:n.49-35A>C
NM_000793.5:c.390A>C	NP_000784.2:p.Ser130=
NM_001007023.3:c.498A>C	NP_001007024.1:p.Ser166=
NM_001242502.1:c.*191A>C	NP_001229431.1:n.*191A>C
NM_001242503.1:c.*191A>C	NP_001229432.1:n.*191A>C
NM_013989.4:c.390A>C	NP_054644.1:p.Ser130=
NM_000793.6:c.390A>C	NP_000784.3:p.Ser130=
NM_001324462.2:c.390A>C	NP_001311391.2:p.Ser130=
NM_001366496.1:c.390A>C	NP_001353425.1:p.Ser130=
NM_013989.5:c.390A>C MANE Select	NP_054644.1:p.Ser130=
NR_158990.1:n.530A>C
NR_158991.1:n.664A>C