Canonical Allele Identifier: CA390765384

Gene: DIO2

Linked Data

• gnomAD v4: 14-80203221-T-A
• MyVariant Identifiers: chr14:g.80669564T>A (hg19) ; chr14:g.80203221T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203221T>A , CM000676.2:g.80203221T>A	GRCh38
NC_000014.8:g.80669564T>A , CM000676.1:g.80669564T>A	GRCh37
NC_000014.7:g.79739317T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.290A>T MANE Select	ENSP00000405854.5:p.Asn97Ile
ENST00000555750.2:c.*128A>T	ENSP00000450980.2:n.*128A>T
ENST00000422005.7:c.*91A>T	ENSP00000411438.4:n.*91A>T
ENST00000438257.8:c.290A>T	ENSP00000405854.4:p.Asn97Ile
ENST00000555750.1:c.398A>T	ENSP00000450980.1:p.Asn133Ile
ENST00000555844.1:c.374A>T
ENST00000556811.5:c.266A>T
ENST00000557010.5:c.290A>T	ENSP00000451419.1:p.Asn97Ile
ENST00000557125.1:c.49-135A>T	ENSP00000450547.1:n.49-135A>T
NM_000793.5:c.290A>T	NP_000784.2:p.Asn97Ile
NM_001007023.3:c.398A>T	NP_001007024.1:p.Asn133Ile
NM_001242502.1:c.*91A>T	NP_001229431.1:n.*91A>T
NM_001242503.1:c.*91A>T	NP_001229432.1:n.*91A>T
NM_013989.4:c.290A>T	NP_054644.1:p.Asn97Ile
NM_000793.6:c.290A>T	NP_000784.3:p.Asn97Ile
NM_001324462.2:c.290A>T	NP_001311391.2:p.Asn97Ile
NM_001366496.1:c.290A>T	NP_001353425.1:p.Asn97Ile
NM_013989.5:c.290A>T MANE Select	NP_054644.1:p.Asn97Ile
NR_158990.1:n.430A>T
NR_158991.1:n.564A>T