Canonical Allele Identifier: CA390764835

Gene: DIO2

Linked Data

• gnomAD v4: 14-80202992-C-T
• MyVariant Identifiers: chr14:g.80669335C>T (hg19) ; chr14:g.80202992C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80202992C>T , CM000676.2:g.80202992C>T	GRCh38
NC_000014.8:g.80669335C>T , CM000676.1:g.80669335C>T	GRCh37
NC_000014.7:g.79739088C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.519G>A MANE Select	ENSP00000405854.5:p.Pro173=
ENST00000555750.2:c.*357G>A	ENSP00000450980.2:n.*357G>A
ENST00000422005.7:c.*320G>A	ENSP00000411438.4:n.*320G>A
ENST00000438257.8:c.519G>A	ENSP00000405854.4:p.Pro173=
ENST00000555750.1:c.627G>A	ENSP00000450980.1:p.Pro209=
ENST00000555844.1:c.603G>A
ENST00000556811.5:c.495G>A
ENST00000557010.5:c.519G>A	ENSP00000451419.1:p.Pro173=
ENST00000557125.1:c.143G>A	ENSP00000450547.1:p.Arg48Gln
NM_000793.5:c.519G>A	NP_000784.2:p.Pro173=
NM_001007023.3:c.627G>A	NP_001007024.1:p.Pro209=
NM_001242502.1:c.*320G>A	NP_001229431.1:n.*320G>A
NM_001242503.1:c.*320G>A	NP_001229432.1:n.*320G>A
NM_013989.4:c.519G>A	NP_054644.1:p.Pro173=
NM_000793.6:c.519G>A	NP_000784.3:p.Pro173=
NM_001324462.2:c.519G>A	NP_001311391.2:p.Pro173=
NM_001366496.1:c.519G>A	NP_001353425.1:p.Pro173=
NM_013989.5:c.519G>A MANE Select	NP_054644.1:p.Pro173=
NR_158990.1:n.659G>A
NR_158991.1:n.793G>A