Canonical Allele Identifier: CA7292676

Gene: DIO2

Linked Data

• dbSNP Id: rs776765611
• ExAC: 14:80669638 G / GT
• gnomAD v4: 14-80203295-G-GT
• MyVariant Identifiers: chr14:g.80669638_80669639insT (hg19) ; chr14:g.80203295_80203296insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203296dup , CM000676.2:g.80203296dup	GRCh38
NC_000014.8:g.80669639dup , CM000676.1:g.80669639dup	GRCh37
NC_000014.7:g.79739392dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-8dup MANE Select	ENSP00000405854.5:n.223-8dup
ENST00000555750.2:c.*61-8dup	ENSP00000450980.2:n.*61-8dup
ENST00000422005.7:c.*24-8dup	ENSP00000411438.4:n.*24-8dup
ENST00000438257.8:c.223-8dup	ENSP00000405854.4:n.223-8dup
ENST00000555750.1:c.331-8dup	ENSP00000450980.1:n.331-8dup
ENST00000555844.1:c.307-8dup
ENST00000556811.5:c.199-8dup
ENST00000557010.5:c.223-8dup	ENSP00000451419.1:n.223-8dup
ENST00000557125.1:c.49-210dup	ENSP00000450547.1:n.49-210dup
NM_000793.5:c.223-8dup	NP_000784.2:n.223-8dup
NM_001007023.3:c.331-8dup	NP_001007024.1:n.331-8dup
NM_001242502.1:c.*24-8dup	NP_001229431.1:n.*24-8dup
NM_001242503.1:c.*24-8dup	NP_001229432.1:n.*24-8dup
NM_013989.4:c.223-8dup	NP_054644.1:n.223-8dup
NM_000793.6:c.223-8dup	NP_000784.3:n.223-8dup
NM_001324462.2:c.223-8dup	NP_001311391.2:n.223-8dup
NM_001366496.1:c.223-8dup	NP_001353425.1:n.223-8dup
NM_013989.5:c.223-8dup MANE Select	NP_054644.1:n.223-8dup
NR_158990.1:n.363-8dup
NR_158991.1:n.497-8dup