Canonical Allele Identifier: CA965121996

Gene: DIO2

Linked Data

• gnomAD v3: 14-80203296-T-TAAAAAA
• gnomAD v4: 14-80203296-T-TAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203306_80203311dup , CM000676.2:g.80203306_80203311dup	GRCh38
NC_000014.8:g.80669649_80669654dup , CM000676.1:g.80669649_80669654dup	GRCh37
NC_000014.7:g.79739402_79739407dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-14_223-9dup MANE Select	ENSP00000405854.5:n.223-14_223-9dup
ENST00000555750.2:c.*61-14_*61-9dup	ENSP00000450980.2:n.*61-14_*61-9dup
ENST00000422005.7:c.*24-14_*24-9dup	ENSP00000411438.4:n.*24-14_*24-9dup
ENST00000438257.8:c.223-14_223-9dup	ENSP00000405854.4:n.223-14_223-9dup
ENST00000555750.1:c.331-14_331-9dup	ENSP00000450980.1:n.331-14_331-9dup
ENST00000555844.1:c.307-14_307-9dup
ENST00000556811.5:c.199-14_199-9dup
ENST00000557010.5:c.223-14_223-9dup	ENSP00000451419.1:n.223-14_223-9dup
ENST00000557125.1:c.49-216_49-211dup	ENSP00000450547.1:n.49-216_49-211dup
NM_000793.5:c.223-14_223-9dup	NP_000784.2:n.223-14_223-9dup
NM_001007023.3:c.331-14_331-9dup	NP_001007024.1:n.331-14_331-9dup
NM_001242502.1:c.*24-14_*24-9dup	NP_001229431.1:n.*24-14_*24-9dup
NM_001242503.1:c.*24-14_*24-9dup	NP_001229432.1:n.*24-14_*24-9dup
NM_013989.4:c.223-14_223-9dup	NP_054644.1:n.223-14_223-9dup
NM_000793.6:c.223-14_223-9dup	NP_000784.3:n.223-14_223-9dup
NM_001324462.2:c.223-14_223-9dup	NP_001311391.2:n.223-14_223-9dup
NM_001366496.1:c.223-14_223-9dup	NP_001353425.1:n.223-14_223-9dup
NM_013989.5:c.223-14_223-9dup MANE Select	NP_054644.1:n.223-14_223-9dup
NR_158990.1:n.363-14_363-9dup
NR_158991.1:n.497-14_497-9dup