Canonical Allele Identifier: CA7292624

Gene: DIO2

Linked Data

• dbSNP Id: rs772714324
• ExAC: 14:80669358 G / GA
• gnomAD v2: 14-80669358-G-GA
• gnomAD v4: 14-80203015-G-GA
• MyVariant Identifiers: chr14:g.80669358_80669359insA (hg19) ; chr14:g.80203015_80203016insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203016dup , CM000676.2:g.80203016dup	GRCh38
NC_000014.8:g.80669359dup , CM000676.1:g.80669359dup	GRCh37
NC_000014.7:g.79739112dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.495dup MANE Select	ENSP00000405854.5:p.Pro166SerfsTer16
ENST00000555750.2:c.*333dup	ENSP00000450980.2:n.*333dup
ENST00000422005.7:c.*296dup	ENSP00000411438.4:n.*296dup
ENST00000438257.8:c.495dup	ENSP00000405854.4:p.Pro166SerfsTer16
ENST00000555750.1:c.603dup	ENSP00000450980.1:p.Pro202SerfsTer16
ENST00000555844.1:c.579dup
ENST00000556811.5:c.471dup
ENST00000557010.5:c.495dup	ENSP00000451419.1:p.Pro166SerfsTer16
ENST00000557125.1:c.119dup	ENSP00000450547.1:p.His41ProfsTer?
NM_000793.5:c.495dup	NP_000784.2:p.Pro166SerfsTer16
NM_001007023.3:c.603dup	NP_001007024.1:p.Pro202SerfsTer16
NM_001242502.1:c.*296dup	NP_001229431.1:n.*296dup
NM_001242503.1:c.*296dup	NP_001229432.1:n.*296dup
NM_013989.4:c.495dup	NP_054644.1:p.Pro166SerfsTer16
NM_000793.6:c.495dup	NP_000784.3:p.Pro166SerfsTer16
NM_001324462.2:c.495dup	NP_001311391.2:p.Pro166SerfsTer16
NM_001366496.1:c.495dup	NP_001353425.1:p.Pro166SerfsTer16
NM_013989.5:c.495dup MANE Select	NP_054644.1:p.Pro166SerfsTer16
NR_158990.1:n.635dup
NR_158991.1:n.769dup