Canonical Allele Identifier: CA390764872

Gene: DIO2

Linked Data

• dbSNP Id: rs759909930
• gnomAD v4: 14-80203006-C-T
• MyVariant Identifiers: chr14:g.80669349C>T (hg19) ; chr14:g.80203006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203006C>T , CM000676.2:g.80203006C>T	GRCh38
NC_000014.8:g.80669349C>T , CM000676.1:g.80669349C>T	GRCh37
NC_000014.7:g.79739102C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.505G>A MANE Select	ENSP00000405854.5:p.Gly169Ser
ENST00000555750.2:c.*343G>A	ENSP00000450980.2:n.*343G>A
ENST00000422005.7:c.*306G>A	ENSP00000411438.4:n.*306G>A
ENST00000438257.8:c.505G>A	ENSP00000405854.4:p.Gly169Ser
ENST00000555750.1:c.613G>A	ENSP00000450980.1:p.Gly205Ser
ENST00000555844.1:c.589G>A
ENST00000556811.5:c.481G>A
ENST00000557010.5:c.505G>A	ENSP00000451419.1:p.Gly169Ser
ENST00000557125.1:c.129G>A	ENSP00000450547.1:p.Met43Ile
NM_000793.5:c.505G>A	NP_000784.2:p.Gly169Ser
NM_001007023.3:c.613G>A	NP_001007024.1:p.Gly205Ser
NM_001242502.1:c.*306G>A	NP_001229431.1:n.*306G>A
NM_001242503.1:c.*306G>A	NP_001229432.1:n.*306G>A
NM_013989.4:c.505G>A	NP_054644.1:p.Gly169Ser
NM_000793.6:c.505G>A	NP_000784.3:p.Gly169Ser
NM_001324462.2:c.505G>A	NP_001311391.2:p.Gly169Ser
NM_001366496.1:c.505G>A	NP_001353425.1:p.Gly169Ser
NM_013989.5:c.505G>A MANE Select	NP_054644.1:p.Gly169Ser
NR_158990.1:n.645G>A
NR_158991.1:n.779G>A