Canonical Allele Identifier: CA390765209

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203137-A-G
• MyVariant Identifiers: chr14:g.80669480A>G (hg19) ; chr14:g.80203137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203137A>G , CM000676.2:g.80203137A>G	GRCh38
NC_000014.8:g.80669480A>G , CM000676.1:g.80669480A>G	GRCh37
NC_000014.7:g.79739233A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438257.9:c.374T>C MANE Select	ENSP00000405854.5:p.Val125Ala
ENST00000555750.2:c.*212T>C	ENSP00000450980.2:n.*212T>C
ENST00000422005.7:c.*175T>C	ENSP00000411438.4:n.*175T>C
ENST00000438257.8:c.374T>C	ENSP00000405854.4:p.Val125Ala
ENST00000555750.1:c.482T>C	ENSP00000450980.1:p.Val161Ala
ENST00000555844.1:c.458T>C
ENST00000556811.5:c.350T>C
ENST00000557010.5:c.374T>C	ENSP00000451419.1:p.Val125Ala
ENST00000557125.1:c.49-51T>C	ENSP00000450547.1:n.49-51T>C
NM_000793.5:c.374T>C	NP_000784.2:p.Val125Ala
NM_001007023.3:c.482T>C	NP_001007024.1:p.Val161Ala
NM_001242502.1:c.*175T>C	NP_001229431.1:n.*175T>C
NM_001242503.1:c.*175T>C	NP_001229432.1:n.*175T>C
NM_013989.4:c.374T>C	NP_054644.1:p.Val125Ala
NM_000793.6:c.374T>C	NP_000784.3:p.Val125Ala
NM_001324462.2:c.374T>C	NP_001311391.2:p.Val125Ala
NM_001366496.1:c.374T>C	NP_001353425.1:p.Val125Ala
NM_013989.5:c.374T>C MANE Select	NP_054644.1:p.Val125Ala
NR_158990.1:n.514T>C
NR_158991.1:n.648T>C