Canonical Allele Identifier: CA615670590

Gene: DIO2

Linked Data

• dbSNP Id: rs1360642133
• gnomAD v2: 14-80669573-CCTT-C
• MyVariant Identifiers: chr14:g.80669574_80669576del (hg19) ; chr14:g.80203231_80203233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203233_80203235del , CM000676.2:g.80203233_80203235del	GRCh38
NC_000014.8:g.80669576_80669578del , CM000676.1:g.80669576_80669578del	GRCh37
NC_000014.7:g.79739329_79739331del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.278_280del MANE Select	ENSP00000405854.5:p.Glu93del
ENST00000555750.2:c.*116_*118del	ENSP00000450980.2:n.*116_*118del
ENST00000422005.7:c.*79_*81del	ENSP00000411438.4:n.*79_*81del
ENST00000438257.8:c.278_280del	ENSP00000405854.4:p.Glu93del
ENST00000555750.1:c.386_388del	ENSP00000450980.1:p.Glu129del
ENST00000555844.1:c.362_364del
ENST00000556811.5:c.254_256del
ENST00000557010.5:c.278_280del	ENSP00000451419.1:p.Glu93del
ENST00000557125.1:c.49-147_49-145del	ENSP00000450547.1:n.49-147_49-145del
NM_000793.5:c.278_280del	NP_000784.2:p.Glu93del
NM_001007023.3:c.386_388del	NP_001007024.1:p.Glu129del
NM_001242502.1:c.*79_*81del	NP_001229431.1:n.*79_*81del
NM_001242503.1:c.*79_*81del	NP_001229432.1:n.*79_*81del
NM_013989.4:c.278_280del	NP_054644.1:p.Glu93del
NM_000793.6:c.278_280del	NP_000784.3:p.Glu93del
NM_001324462.2:c.278_280del	NP_001311391.2:p.Glu93del
NM_001366496.1:c.278_280del	NP_001353425.1:p.Glu93del
NM_013989.5:c.278_280del MANE Select	NP_054644.1:p.Glu93del
NR_158990.1:n.418_420del
NR_158991.1:n.552_554del