Canonical Allele Identifier: CA2149671171

Gene: DIO2

Linked Data

• dbSNP Id: rs1887820754
• gnomAD v4: 14-80203307-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203308_80203309insGA , CM000676.2:g.80203308_80203309insGA	GRCh38
NC_000014.8:g.80669651_80669652insGA , CM000676.1:g.80669651_80669652insGA	GRCh37
NC_000014.7:g.79739404_79739405insGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-20_223-19insCT MANE Select	ENSP00000405854.5:n.223-20_223-19insCT
ENST00000555750.2:c.*61-20_*61-19insCT	ENSP00000450980.2:n.*61-20_*61-19insCT
ENST00000422005.7:c.*24-20_*24-19insCT	ENSP00000411438.4:n.*24-20_*24-19insCT
ENST00000438257.8:c.223-20_223-19insCT	ENSP00000405854.4:n.223-20_223-19insCT
ENST00000555750.1:c.331-20_331-19insCT	ENSP00000450980.1:n.331-20_331-19insCT
ENST00000555844.1:c.307-20_307-19insCT
ENST00000556811.5:c.199-20_199-19insCT
ENST00000557010.5:c.223-20_223-19insCT	ENSP00000451419.1:n.223-20_223-19insCT
ENST00000557125.1:c.49-222_49-221insCT	ENSP00000450547.1:n.49-222_49-221insCT
NM_000793.5:c.223-20_223-19insCT	NP_000784.2:n.223-20_223-19insCT
NM_001007023.3:c.331-20_331-19insCT	NP_001007024.1:n.331-20_331-19insCT
NM_001242502.1:c.*24-20_*24-19insCT	NP_001229431.1:n.*24-20_*24-19insCT
NM_001242503.1:c.*24-20_*24-19insCT	NP_001229432.1:n.*24-20_*24-19insCT
NM_013989.4:c.223-20_223-19insCT	NP_054644.1:n.223-20_223-19insCT
NM_000793.6:c.223-20_223-19insCT	NP_000784.3:n.223-20_223-19insCT
NM_001324462.2:c.223-20_223-19insCT	NP_001311391.2:n.223-20_223-19insCT
NM_001366496.1:c.223-20_223-19insCT	NP_001353425.1:n.223-20_223-19insCT
NM_013989.5:c.223-20_223-19insCT MANE Select	NP_054644.1:n.223-20_223-19insCT
NR_158990.1:n.363-20_363-19insCT
NR_158991.1:n.497-20_497-19insCT