Canonical Allele Identifier: CA7292627

Gene: DIO2

Linked Data

• dbSNP Id: rs775939448
• ExAC: 14:80669384 AG / A
• gnomAD v2: 14-80669384-AG-A
• gnomAD v4: 14-80203041-AG-A
• MyVariant Identifiers: chr14:g.80669385del (hg19) ; chr14:g.80203042del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203043del , CM000676.2:g.80203043del	GRCh38
NC_000014.8:g.80669386del , CM000676.1:g.80669386del	GRCh37
NC_000014.7:g.79739139del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438257.9:c.469del MANE Select	ENSP00000405854.5:p.Leu157CysfsTer26
ENST00000555750.2:c.*307del	ENSP00000450980.2:n.*307del
ENST00000422005.7:c.*270del	ENSP00000411438.4:n.*270del
ENST00000438257.8:c.469del	ENSP00000405854.4:p.Leu157CysfsTer26
ENST00000555750.1:c.577del	ENSP00000450980.1:p.Leu193CysfsTer26
ENST00000555844.1:c.553del
ENST00000556811.5:c.445del
ENST00000557010.5:c.469del	ENSP00000451419.1:p.Leu157CysfsTer26
ENST00000557125.1:c.93del	ENSP00000450547.1:p.Cys32AlafsTer5
NM_000793.5:c.469del	NP_000784.2:p.Leu157CysfsTer26
NM_001007023.3:c.577del	NP_001007024.1:p.Leu193CysfsTer26
NM_001242502.1:c.*270del	NP_001229431.1:n.*270del
NM_001242503.1:c.*270del	NP_001229432.1:n.*270del
NM_013989.4:c.469del	NP_054644.1:p.Leu157CysfsTer26
NM_000793.6:c.469del	NP_000784.3:p.Leu157CysfsTer26
NM_001324462.2:c.469del	NP_001311391.2:p.Leu157CysfsTer26
NM_001366496.1:c.469del	NP_001353425.1:p.Leu157CysfsTer26
NM_013989.5:c.469del MANE Select	NP_054644.1:p.Leu157CysfsTer26
NR_158990.1:n.609del
NR_158991.1:n.743del