Canonical Allele Identifier: CA390765082

Gene: DIO2

Linked Data

• dbSNP Id: rs1887803450
• gnomAD v3: 14-80203080-C-T
• gnomAD v4: 14-80203080-C-T
• MyVariant Identifiers: chr14:g.80669423C>T (hg19) ; chr14:g.80203080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203080C>T , CM000676.2:g.80203080C>T	GRCh38
NC_000014.8:g.80669423C>T , CM000676.1:g.80669423C>T	GRCh37
NC_000014.7:g.79739176C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.431G>A MANE Select	ENSP00000405854.5:p.Arg144His
ENST00000555750.2:c.*269G>A	ENSP00000450980.2:n.*269G>A
ENST00000422005.7:c.*232G>A	ENSP00000411438.4:n.*232G>A
ENST00000438257.8:c.431G>A	ENSP00000405854.4:p.Arg144His
ENST00000555750.1:c.539G>A	ENSP00000450980.1:p.Arg180His
ENST00000555844.1:c.515G>A
ENST00000556811.5:c.407G>A
ENST00000557010.5:c.431G>A	ENSP00000451419.1:p.Arg144His
ENST00000557125.1:c.55G>A	ENSP00000450547.1:p.Ala19Thr
NM_000793.5:c.431G>A	NP_000784.2:p.Arg144His
NM_001007023.3:c.539G>A	NP_001007024.1:p.Arg180His
NM_001242502.1:c.*232G>A	NP_001229431.1:n.*232G>A
NM_001242503.1:c.*232G>A	NP_001229432.1:n.*232G>A
NM_013989.4:c.431G>A	NP_054644.1:p.Arg144His
NM_000793.6:c.431G>A	NP_000784.3:p.Arg144His
NM_001324462.2:c.431G>A	NP_001311391.2:p.Arg144His
NM_001366496.1:c.431G>A	NP_001353425.1:p.Arg144His
NM_013989.5:c.431G>A MANE Select	NP_054644.1:p.Arg144His
NR_158990.1:n.571G>A
NR_158991.1:n.705G>A