Canonical Allele Identifier: CA390765060

Gene: DIO2

Linked Data

• MyVariant Identifiers: chr14:g.80669416C>A (hg19) ; chr14:g.80203073C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203073C>A , CM000676.2:g.80203073C>A	GRCh38
NC_000014.8:g.80669416C>A , CM000676.1:g.80669416C>A	GRCh37
NC_000014.7:g.79739169C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.438G>T MANE Select	ENSP00000405854.5:p.Leu146=
ENST00000555750.2:c.*276G>T	ENSP00000450980.2:n.*276G>T
ENST00000422005.7:c.*239G>T	ENSP00000411438.4:n.*239G>T
ENST00000438257.8:c.438G>T	ENSP00000405854.4:p.Leu146=
ENST00000555750.1:c.546G>T	ENSP00000450980.1:p.Leu182=
ENST00000555844.1:c.522G>T
ENST00000556811.5:c.414G>T
ENST00000557010.5:c.438G>T	ENSP00000451419.1:p.Leu146=
ENST00000557125.1:c.62G>T	ENSP00000450547.1:p.Trp21Leu
NM_000793.5:c.438G>T	NP_000784.2:p.Leu146=
NM_001007023.3:c.546G>T	NP_001007024.1:p.Leu182=
NM_001242502.1:c.*239G>T	NP_001229431.1:n.*239G>T
NM_001242503.1:c.*239G>T	NP_001229432.1:n.*239G>T
NM_013989.4:c.438G>T	NP_054644.1:p.Leu146=
NM_000793.6:c.438G>T	NP_000784.3:p.Leu146=
NM_001324462.2:c.438G>T	NP_001311391.2:p.Leu146=
NM_001366496.1:c.438G>T	NP_001353425.1:p.Leu146=
NM_013989.5:c.438G>T MANE Select	NP_054644.1:p.Leu146=
NR_158990.1:n.578G>T
NR_158991.1:n.712G>T