Canonical Allele Identifier: CA390765426

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203239-C-G
• MyVariant Identifiers: chr14:g.80669582C>G (hg19) ; chr14:g.80203239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203239C>G , CM000676.2:g.80203239C>G	GRCh38
NC_000014.8:g.80669582C>G , CM000676.1:g.80669582C>G	GRCh37
NC_000014.7:g.79739335C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000438257.9:c.272G>C MANE Select	ENSP00000405854.5:p.Ser91Thr
ENST00000555750.2:c.*110G>C	ENSP00000450980.2:n.*110G>C
ENST00000422005.7:c.*73G>C	ENSP00000411438.4:n.*73G>C
ENST00000438257.8:c.272G>C	ENSP00000405854.4:p.Ser91Thr
ENST00000555750.1:c.380G>C	ENSP00000450980.1:p.Ser127Thr
ENST00000555844.1:c.356G>C
ENST00000556811.5:c.248G>C
ENST00000557010.5:c.272G>C	ENSP00000451419.1:p.Ser91Thr
ENST00000557125.1:c.49-153G>C	ENSP00000450547.1:n.49-153G>C
NM_000793.5:c.272G>C	NP_000784.2:p.Ser91Thr
NM_001007023.3:c.380G>C	NP_001007024.1:p.Ser127Thr
NM_001242502.1:c.*73G>C	NP_001229431.1:n.*73G>C
NM_001242503.1:c.*73G>C	NP_001229432.1:n.*73G>C
NM_013989.4:c.272G>C	NP_054644.1:p.Ser91Thr
NM_000793.6:c.272G>C	NP_000784.3:p.Ser91Thr
NM_001324462.2:c.272G>C	NP_001311391.2:p.Ser91Thr
NM_001366496.1:c.272G>C	NP_001353425.1:p.Ser91Thr
NM_013989.5:c.272G>C MANE Select	NP_054644.1:p.Ser91Thr
NR_158990.1:n.412G>C
NR_158991.1:n.546G>C