Canonical Allele Identifier: CA2149671200

Gene: DIO2

Linked Data

• dbSNP Id: rs755941003
• gnomAD v3: 14-80203309-A-AAAGAAG
• gnomAD v4: 14-80203309-A-AAAGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203322_80203327dup , CM000676.2:g.80203322_80203327dup	GRCh38
NC_000014.8:g.80669665_80669670dup , CM000676.1:g.80669665_80669670dup	GRCh37
NC_000014.7:g.79739418_79739423dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-27_223-22dup MANE Select	ENSP00000405854.5:n.223-27_223-22dup
ENST00000555750.2:c.*61-27_*61-22dup	ENSP00000450980.2:n.*61-27_*61-22dup
ENST00000422005.7:c.*24-27_*24-22dup	ENSP00000411438.4:n.*24-27_*24-22dup
ENST00000438257.8:c.223-27_223-22dup	ENSP00000405854.4:n.223-27_223-22dup
ENST00000555750.1:c.331-27_331-22dup	ENSP00000450980.1:n.331-27_331-22dup
ENST00000555844.1:c.307-27_307-22dup
ENST00000556811.5:c.199-27_199-22dup
ENST00000557010.5:c.223-27_223-22dup	ENSP00000451419.1:n.223-27_223-22dup
ENST00000557125.1:c.49-229_49-224dup	ENSP00000450547.1:n.49-229_49-224dup
NM_000793.5:c.223-27_223-22dup	NP_000784.2:n.223-27_223-22dup
NM_001007023.3:c.331-27_331-22dup	NP_001007024.1:n.331-27_331-22dup
NM_001242502.1:c.*24-27_*24-22dup	NP_001229431.1:n.*24-27_*24-22dup
NM_001242503.1:c.*24-27_*24-22dup	NP_001229432.1:n.*24-27_*24-22dup
NM_013989.4:c.223-27_223-22dup	NP_054644.1:n.223-27_223-22dup
NM_000793.6:c.223-27_223-22dup	NP_000784.3:n.223-27_223-22dup
NM_001324462.2:c.223-27_223-22dup	NP_001311391.2:n.223-27_223-22dup
NM_001366496.1:c.223-27_223-22dup	NP_001353425.1:n.223-27_223-22dup
NM_013989.5:c.223-27_223-22dup MANE Select	NP_054644.1:n.223-27_223-22dup
NR_158990.1:n.363-27_363-22dup
NR_158991.1:n.497-27_497-22dup