Canonical Allele Identifier: CA390764738

Gene: DIO2

Linked Data

• MyVariant Identifiers: chr14:g.80669299G>C (hg19) ; chr14:g.80202956G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80202956G>C , CM000676.2:g.80202956G>C	GRCh38
NC_000014.8:g.80669299G>C , CM000676.1:g.80669299G>C	GRCh37
NC_000014.7:g.79739052G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.555C>G MANE Select	ENSP00000405854.5:p.His185Gln
ENST00000555750.2:c.*393C>G	ENSP00000450980.2:n.*393C>G
ENST00000422005.7:c.*356C>G	ENSP00000411438.4:n.*356C>G
ENST00000438257.8:c.555C>G	ENSP00000405854.4:p.His185Gln
ENST00000555750.1:c.663C>G	ENSP00000450980.1:p.His221Gln
ENST00000555844.1:c.639C>G
ENST00000556811.5:c.531C>G
ENST00000557010.5:c.555C>G	ENSP00000451419.1:p.His185Gln
ENST00000557125.1:c.179C>G	ENSP00000450547.1:n.179C>G
NM_000793.5:c.555C>G	NP_000784.2:p.His185Gln
NM_001007023.3:c.663C>G	NP_001007024.1:p.His221Gln
NM_001242502.1:c.*356C>G	NP_001229431.1:n.*356C>G
NM_001242503.1:c.*356C>G	NP_001229432.1:n.*356C>G
NM_013989.4:c.555C>G	NP_054644.1:p.His185Gln
NM_000793.6:c.555C>G	NP_000784.3:p.His185Gln
NM_001324462.2:c.555C>G	NP_001311391.2:p.His185Gln
NM_001366496.1:c.555C>G	NP_001353425.1:p.His185Gln
NM_013989.5:c.555C>G MANE Select	NP_054644.1:p.His185Gln
NR_158990.1:n.695C>G
NR_158991.1:n.829C>G