Canonical Allele Identifier: CA390765275

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203171-G-A
• MyVariant Identifiers: chr14:g.80669514G>A (hg19) ; chr14:g.80203171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203171G>A , CM000676.2:g.80203171G>A	GRCh38
NC_000014.8:g.80669514G>A , CM000676.1:g.80669514G>A	GRCh37
NC_000014.7:g.79739267G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.340C>T MANE Select	ENSP00000405854.5:p.Leu114Phe
ENST00000555750.2:c.*178C>T	ENSP00000450980.2:n.*178C>T
ENST00000422005.7:c.*141C>T	ENSP00000411438.4:n.*141C>T
ENST00000438257.8:c.340C>T	ENSP00000405854.4:p.Leu114Phe
ENST00000555750.1:c.448C>T	ENSP00000450980.1:p.Leu150Phe
ENST00000555844.1:c.424C>T
ENST00000556811.5:c.316C>T
ENST00000557010.5:c.340C>T	ENSP00000451419.1:p.Leu114Phe
ENST00000557125.1:c.49-85C>T	ENSP00000450547.1:n.49-85C>T
NM_000793.5:c.340C>T	NP_000784.2:p.Leu114Phe
NM_001007023.3:c.448C>T	NP_001007024.1:p.Leu150Phe
NM_001242502.1:c.*141C>T	NP_001229431.1:n.*141C>T
NM_001242503.1:c.*141C>T	NP_001229432.1:n.*141C>T
NM_013989.4:c.340C>T	NP_054644.1:p.Leu114Phe
NM_000793.6:c.340C>T	NP_000784.3:p.Leu114Phe
NM_001324462.2:c.340C>T	NP_001311391.2:p.Leu114Phe
NM_001366496.1:c.340C>T	NP_001353425.1:p.Leu114Phe
NM_013989.5:c.340C>T MANE Select	NP_054644.1:p.Leu114Phe
NR_158990.1:n.480C>T
NR_158991.1:n.614C>T