Canonical Allele Identifier: CA487516937
Gene: DIO2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.80669485T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80203142T>G , CM000676.2:g.80203142T>G GRCh38
NC_000014.8:g.80669485T>G , CM000676.1:g.80669485T>G GRCh37
NC_000014.7:g.79739238T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438257.9:c.369A>C MANE Select ENSP00000405854.5:p.Pro123=
ENST00000555750.2:c.*207A>C ENSP00000450980.2:n.*207A>C
ENST00000422005.7:c.*170A>C ENSP00000411438.4:n.*170A>C
ENST00000438257.8:c.369A>C ENSP00000405854.4:p.Pro123=
ENST00000555750.1:c.477A>C ENSP00000450980.1:p.Pro159=
ENST00000555844.1:c.453A>C
ENST00000556811.5:c.345A>C
ENST00000557010.5:c.369A>C ENSP00000451419.1:p.Pro123=
ENST00000557125.1:c.49-56A>C ENSP00000450547.1:n.49-56A>C
NM_000793.5:c.369A>C NP_000784.2:p.Pro123=
NM_001007023.3:c.477A>C NP_001007024.1:p.Pro159=
NM_001242502.1:c.*170A>C NP_001229431.1:n.*170A>C
NM_001242503.1:c.*170A>C NP_001229432.1:n.*170A>C
NM_013989.4:c.369A>C NP_054644.1:p.Pro123=
NM_000793.6:c.369A>C NP_000784.3:p.Pro123=
NM_001324462.2:c.369A>C NP_001311391.2:p.Pro123=
NM_001366496.1:c.369A>C NP_001353425.1:p.Pro123=
NM_013989.5:c.369A>C MANE Select NP_054644.1:p.Pro123=
NR_158990.1:n.509A>C
NR_158991.1:n.643A>C