Canonical Allele Identifier: CA7292640

Gene: DIO2

Linked Data

• dbSNP Id: rs746553364
• ExAC: 14:80669431 T / A
• gnomAD v2: 14-80669431-T-A
• gnomAD v4: 14-80203088-T-A
• MyVariant Identifiers: chr14:g.80669431T>A (hg19) ; chr14:g.80203088T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203088T>A , CM000676.2:g.80203088T>A	GRCh38
NC_000014.8:g.80669431T>A , CM000676.1:g.80669431T>A	GRCh37
NC_000014.7:g.79739184T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.423A>T MANE Select	ENSP00000405854.5:p.Pro141=
ENST00000555750.2:c.*261A>T	ENSP00000450980.2:n.*261A>T
ENST00000422005.7:c.*224A>T	ENSP00000411438.4:n.*224A>T
ENST00000438257.8:c.423A>T	ENSP00000405854.4:p.Pro141=
ENST00000555750.1:c.531A>T	ENSP00000450980.1:p.Pro177=
ENST00000555844.1:c.507A>T
ENST00000556811.5:c.399A>T
ENST00000557010.5:c.423A>T	ENSP00000451419.1:p.Pro141=
ENST00000557125.1:c.49-2A>T	ENSP00000450547.1:n.49-2A>T
NM_000793.5:c.423A>T	NP_000784.2:p.Pro141=
NM_001007023.3:c.531A>T	NP_001007024.1:p.Pro177=
NM_001242502.1:c.*224A>T	NP_001229431.1:n.*224A>T
NM_001242503.1:c.*224A>T	NP_001229432.1:n.*224A>T
NM_013989.4:c.423A>T	NP_054644.1:p.Pro141=
NM_000793.6:c.423A>T	NP_000784.3:p.Pro141=
NM_001324462.2:c.423A>T	NP_001311391.2:p.Pro141=
NM_001366496.1:c.423A>T	NP_001353425.1:p.Pro141=
NM_013989.5:c.423A>T MANE Select	NP_054644.1:p.Pro141=
NR_158990.1:n.563A>T
NR_158991.1:n.697A>T