Canonical Allele Identifier: CA2596601883

Gene: DIO2

Linked Data

• dbSNP Id: rs2139997531
• gnomAD v3: 14-80203498-CTT-C
• gnomAD v4: 14-80203498-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203502_80203503del , CM000676.2:g.80203502_80203503del	GRCh38
NC_000014.8:g.80669845_80669846del , CM000676.1:g.80669845_80669846del	GRCh37
NC_000014.7:g.79739598_79739599del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.223-212_223-211del MANE Select	ENSP00000405854.5:n.223-212_223-211del
ENST00000555750.2:c.*61-212_*61-211del	ENSP00000450980.2:n.*61-212_*61-211del
ENST00000422005.7:c.*24-212_*24-211del	ENSP00000411438.4:n.*24-212_*24-211del
ENST00000438257.8:c.223-212_223-211del	ENSP00000405854.4:n.223-212_223-211del
ENST00000555750.1:c.331-212_331-211del	ENSP00000450980.1:n.331-212_331-211del
ENST00000555844.1:c.307-212_307-211del
ENST00000556811.5:c.199-212_199-211del
ENST00000557010.5:c.223-212_223-211del	ENSP00000451419.1:n.223-212_223-211del
ENST00000557125.1:c.49-414_49-413del	ENSP00000450547.1:n.49-414_49-413del
NM_000793.5:c.223-212_223-211del	NP_000784.2:n.223-212_223-211del
NM_001007023.3:c.331-212_331-211del	NP_001007024.1:n.331-212_331-211del
NM_001242502.1:c.*24-212_*24-211del	NP_001229431.1:n.*24-212_*24-211del
NM_001242503.1:c.*24-212_*24-211del	NP_001229432.1:n.*24-212_*24-211del
NM_013989.4:c.223-212_223-211del	NP_054644.1:n.223-212_223-211del
NM_000793.6:c.223-212_223-211del	NP_000784.3:n.223-212_223-211del
NM_001324462.2:c.223-212_223-211del	NP_001311391.2:n.223-212_223-211del
NM_001366496.1:c.223-212_223-211del	NP_001353425.1:n.223-212_223-211del
NM_013989.5:c.223-212_223-211del MANE Select	NP_054644.1:n.223-212_223-211del
NR_158990.1:n.363-212_363-211del
NR_158991.1:n.497-212_497-211del