Canonical Allele Identifier: CA7292650

Gene: DIO2

Linked Data

• dbSNP Id: rs750658923
• ExAC: 14:80669510 A / G
• gnomAD v2: 14-80669510-A-G
• gnomAD v4: 14-80203167-A-G
• MyVariant Identifiers: chr14:g.80669510A>G (hg19) ; chr14:g.80203167A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203167A>G , CM000676.2:g.80203167A>G	GRCh38
NC_000014.8:g.80669510A>G , CM000676.1:g.80669510A>G	GRCh37
NC_000014.7:g.79739263A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.344T>C MANE Select	ENSP00000405854.5:p.Leu115Pro
ENST00000555750.2:c.*182T>C	ENSP00000450980.2:n.*182T>C
ENST00000422005.7:c.*145T>C	ENSP00000411438.4:n.*145T>C
ENST00000438257.8:c.344T>C	ENSP00000405854.4:p.Leu115Pro
ENST00000555750.1:c.452T>C	ENSP00000450980.1:p.Leu151Pro
ENST00000555844.1:c.428T>C
ENST00000556811.5:c.320T>C
ENST00000557010.5:c.344T>C	ENSP00000451419.1:p.Leu115Pro
ENST00000557125.1:c.49-81T>C	ENSP00000450547.1:n.49-81T>C
NM_000793.5:c.344T>C	NP_000784.2:p.Leu115Pro
NM_001007023.3:c.452T>C	NP_001007024.1:p.Leu151Pro
NM_001242502.1:c.*145T>C	NP_001229431.1:n.*145T>C
NM_001242503.1:c.*145T>C	NP_001229432.1:n.*145T>C
NM_013989.4:c.344T>C	NP_054644.1:p.Leu115Pro
NM_000793.6:c.344T>C	NP_000784.3:p.Leu115Pro
NM_001324462.2:c.344T>C	NP_001311391.2:p.Leu115Pro
NM_001366496.1:c.344T>C	NP_001353425.1:p.Leu115Pro
NM_013989.5:c.344T>C MANE Select	NP_054644.1:p.Leu115Pro
NR_158990.1:n.484T>C
NR_158991.1:n.618T>C