Canonical Allele Identifier: CA2625915580

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203295-G-GGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203295_80203296insGAA , CM000676.2:g.80203295_80203296insGAA	GRCh38
NC_000014.8:g.80669638_80669639insGAA , CM000676.1:g.80669638_80669639insGAA	GRCh37
NC_000014.7:g.79739391_79739392insGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-8_223-7insTTC MANE Select	ENSP00000405854.5:n.223-8_223-7insTTC
ENST00000555750.2:c.*61-8_*61-7insTTC	ENSP00000450980.2:n.*61-8_*61-7insTTC
ENST00000422005.7:c.*24-8_*24-7insTTC	ENSP00000411438.4:n.*24-8_*24-7insTTC
ENST00000438257.8:c.223-8_223-7insTTC	ENSP00000405854.4:n.223-8_223-7insTTC
ENST00000555750.1:c.331-8_331-7insTTC	ENSP00000450980.1:n.331-8_331-7insTTC
ENST00000555844.1:c.307-8_307-7insTTC
ENST00000556811.5:c.199-8_199-7insTTC
ENST00000557010.5:c.223-8_223-7insTTC	ENSP00000451419.1:n.223-8_223-7insTTC
ENST00000557125.1:c.49-210_49-209insTTC	ENSP00000450547.1:n.49-210_49-209insTTC
NM_000793.5:c.223-8_223-7insTTC	NP_000784.2:n.223-8_223-7insTTC
NM_001007023.3:c.331-8_331-7insTTC	NP_001007024.1:n.331-8_331-7insTTC
NM_001242502.1:c.*24-8_*24-7insTTC	NP_001229431.1:n.*24-8_*24-7insTTC
NM_001242503.1:c.*24-8_*24-7insTTC	NP_001229432.1:n.*24-8_*24-7insTTC
NM_013989.4:c.223-8_223-7insTTC	NP_054644.1:n.223-8_223-7insTTC
NM_000793.6:c.223-8_223-7insTTC	NP_000784.3:n.223-8_223-7insTTC
NM_001324462.2:c.223-8_223-7insTTC	NP_001311391.2:n.223-8_223-7insTTC
NM_001366496.1:c.223-8_223-7insTTC	NP_001353425.1:n.223-8_223-7insTTC
NM_013989.5:c.223-8_223-7insTTC MANE Select	NP_054644.1:n.223-8_223-7insTTC
NR_158990.1:n.363-8_363-7insTTC
NR_158991.1:n.497-8_497-7insTTC