Canonical Allele Identifier: CA7292634

Gene: DIO2

Linked Data

• ClinVar Variation Id: 3082405
• ClinVar RCV Id: RCV004373744
• dbSNP Id: rs754813109
• ExAC: 14:80669408 T / G
• gnomAD v2: 14-80669408-T-G
• gnomAD v4: 14-80203065-T-G
• MyVariant Identifiers: chr14:g.80669408T>G (hg19) ; chr14:g.80203065T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203065T>G , CM000676.2:g.80203065T>G	GRCh38
NC_000014.8:g.80669408T>G , CM000676.1:g.80669408T>G	GRCh37
NC_000014.7:g.79739161T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.446A>C MANE Select	ENSP00000405854.5:p.Glu149Ala
ENST00000555750.2:c.*284A>C	ENSP00000450980.2:n.*284A>C
ENST00000422005.7:c.*247A>C	ENSP00000411438.4:n.*247A>C
ENST00000438257.8:c.446A>C	ENSP00000405854.4:p.Glu149Ala
ENST00000555750.1:c.554A>C	ENSP00000450980.1:p.Glu185Ala
ENST00000555844.1:c.530A>C
ENST00000556811.5:c.422A>C
ENST00000557010.5:c.446A>C	ENSP00000451419.1:p.Glu149Ala
ENST00000557125.1:c.70A>C	ENSP00000450547.1:p.Ser24Arg
NM_000793.5:c.446A>C	NP_000784.2:p.Glu149Ala
NM_001007023.3:c.554A>C	NP_001007024.1:p.Glu185Ala
NM_001242502.1:c.*247A>C	NP_001229431.1:n.*247A>C
NM_001242503.1:c.*247A>C	NP_001229432.1:n.*247A>C
NM_013989.4:c.446A>C	NP_054644.1:p.Glu149Ala
NM_000793.6:c.446A>C	NP_000784.3:p.Glu149Ala
NM_001324462.2:c.446A>C	NP_001311391.2:p.Glu149Ala
NM_001366496.1:c.446A>C	NP_001353425.1:p.Glu149Ala
NM_013989.5:c.446A>C MANE Select	NP_054644.1:p.Glu149Ala
NR_158990.1:n.586A>C
NR_158991.1:n.720A>C