Canonical Allele Identifier: CA708982548

Gene: DIO2

Linked Data

• dbSNP Id: rs225011
• gnomAD v4: 14-80205865-T-A
• MyVariant Identifiers: chr14:g.80672208T>A (hg19) ; chr14:g.80205865T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80205865T>A , CM000676.2:g.80205865T>A	GRCh38
NC_000014.8:g.80672208T>A , CM000676.1:g.80672208T>A	GRCh37
NC_000014.7:g.79741961T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438257.9:c.223-2577A>T MANE Select	ENSP00000405854.5:n.223-2577A>T
ENST00000555750.2:c.*60+366A>T	ENSP00000450980.2:n.*60+366A>T
ENST00000422005.7:c.328-130A>T	ENSP00000411438.4:n.328-130A>T
ENST00000438257.8:c.223-2577A>T	ENSP00000405854.4:n.223-2577A>T
ENST00000555750.1:c.330+366A>T	ENSP00000450980.1:n.330+366A>T
ENST00000555844.1:c.173-130A>T
ENST00000556811.5:c.65-130A>T
ENST00000557010.5:c.223-2577A>T	ENSP00000451419.1:n.223-2577A>T
ENST00000557125.1:c.49-2779A>T	ENSP00000450547.1:n.49-2779A>T
NM_000793.5:c.223-2577A>T	NP_000784.2:n.223-2577A>T
NM_001007023.3:c.330+366A>T	NP_001007024.1:n.330+366A>T
NM_001242502.1:c.331-130A>T	NP_001229431.1:n.331-130A>T
NM_001242503.1:c.223-130A>T	NP_001229432.1:n.223-130A>T
NM_013989.4:c.223-2577A>T	NP_054644.1:n.223-2577A>T
NM_000793.6:c.223-2577A>T	NP_000784.3:n.223-2577A>T
NM_001324462.2:c.223-2577A>T	NP_001311391.2:n.223-2577A>T
NM_001366496.1:c.223-2577A>T	NP_001353425.1:n.223-2577A>T
NM_013989.5:c.223-2577A>T MANE Select	NP_054644.1:n.223-2577A>T
NR_158990.1:n.362+366A>T
NR_158991.1:n.363-130A>T