Canonical Allele Identifier: CA7292660

Gene: DIO2

Linked Data

• dbSNP Id: rs369888390
• ExAC: 14:80669585 G / A
• gnomAD v2: 14-80669585-G-A
• gnomAD v4: 14-80203242-G-A
• MyVariant Identifiers: chr14:g.80669585G>A (hg19) ; chr14:g.80203242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203242G>A , CM000676.2:g.80203242G>A	GRCh38
NC_000014.8:g.80669585G>A , CM000676.1:g.80669585G>A	GRCh37
NC_000014.7:g.79739338G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438257.9:c.269C>T MANE Select	ENSP00000405854.5:p.Ser90Phe
ENST00000555750.2:c.*107C>T	ENSP00000450980.2:n.*107C>T
ENST00000422005.7:c.*70C>T	ENSP00000411438.4:n.*70C>T
ENST00000438257.8:c.269C>T	ENSP00000405854.4:p.Ser90Phe
ENST00000555750.1:c.377C>T	ENSP00000450980.1:p.Ser126Phe
ENST00000555844.1:c.353C>T
ENST00000556811.5:c.245C>T
ENST00000557010.5:c.269C>T	ENSP00000451419.1:p.Ser90Phe
ENST00000557125.1:c.49-156C>T	ENSP00000450547.1:n.49-156C>T
NM_000793.5:c.269C>T	NP_000784.2:p.Ser90Phe
NM_001007023.3:c.377C>T	NP_001007024.1:p.Ser126Phe
NM_001242502.1:c.*70C>T	NP_001229431.1:n.*70C>T
NM_001242503.1:c.*70C>T	NP_001229432.1:n.*70C>T
NM_013989.4:c.269C>T	NP_054644.1:p.Ser90Phe
NM_000793.6:c.269C>T	NP_000784.3:p.Ser90Phe
NM_001324462.2:c.269C>T	NP_001311391.2:p.Ser90Phe
NM_001366496.1:c.269C>T	NP_001353425.1:p.Ser90Phe
NM_013989.5:c.269C>T MANE Select	NP_054644.1:p.Ser90Phe
NR_158990.1:n.409C>T
NR_158991.1:n.543C>T