Canonical Allele Identifier: CA390765043

Gene: DIO2

Linked Data

• dbSNP Id: rs1171082096
• gnomAD v2: 14-80669410-T-C
• gnomAD v4: 14-80203067-T-C
• MyVariant Identifiers: chr14:g.80669410T>C (hg19) ; chr14:g.80203067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203067T>C , CM000676.2:g.80203067T>C	GRCh38
NC_000014.8:g.80669410T>C , CM000676.1:g.80669410T>C	GRCh37
NC_000014.7:g.79739163T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.444A>G MANE Select	ENSP00000405854.5:p.Glu148=
ENST00000555750.2:c.*282A>G	ENSP00000450980.2:n.*282A>G
ENST00000422005.7:c.*245A>G	ENSP00000411438.4:n.*245A>G
ENST00000438257.8:c.444A>G	ENSP00000405854.4:p.Glu148=
ENST00000555750.1:c.552A>G	ENSP00000450980.1:p.Glu184=
ENST00000555844.1:c.528A>G
ENST00000556811.5:c.420A>G
ENST00000557010.5:c.444A>G	ENSP00000451419.1:p.Glu148=
ENST00000557125.1:c.68A>G	ENSP00000450547.1:p.Lys23Arg
NM_000793.5:c.444A>G	NP_000784.2:p.Glu148=
NM_001007023.3:c.552A>G	NP_001007024.1:p.Glu184=
NM_001242502.1:c.*245A>G	NP_001229431.1:n.*245A>G
NM_001242503.1:c.*245A>G	NP_001229432.1:n.*245A>G
NM_013989.4:c.444A>G	NP_054644.1:p.Glu148=
NM_000793.6:c.444A>G	NP_000784.3:p.Glu148=
NM_001324462.2:c.444A>G	NP_001311391.2:p.Glu148=
NM_001366496.1:c.444A>G	NP_001353425.1:p.Glu148=
NM_013989.5:c.444A>G MANE Select	NP_054644.1:p.Glu148=
NR_158990.1:n.584A>G
NR_158991.1:n.718A>G