Canonical Allele Identifier: CA7292663
Gene: DIO2 HGNC NCBI

Linked Data

dbSNP Id: rs768976300
ExAC: 14:80669589 C / T
gnomAD v2: 14-80669589-C-T
gnomAD v4: 14-80203246-C-T
MyVariant Identifiers: chr14:g.80669589C>T (hg19) chr14:g.80203246C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80203246C>T , CM000676.2:g.80203246C>T GRCh38
NC_000014.8:g.80669589C>T , CM000676.1:g.80669589C>T GRCh37
NC_000014.7:g.79739342C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000438257.9:c.265G>A MANE Select ENSP00000405854.5:p.Val89Ile
ENST00000555750.2:c.*103G>A ENSP00000450980.2:n.*103G>A
ENST00000422005.7:c.*66G>A ENSP00000411438.4:n.*66G>A
ENST00000438257.8:c.265G>A ENSP00000405854.4:p.Val89Ile
ENST00000555750.1:c.373G>A ENSP00000450980.1:p.Val125Ile
ENST00000555844.1:c.349G>A
ENST00000556811.5:c.241G>A
ENST00000557010.5:c.265G>A ENSP00000451419.1:p.Val89Ile
ENST00000557125.1:c.49-160G>A ENSP00000450547.1:n.49-160G>A
NM_000793.5:c.265G>A NP_000784.2:p.Val89Ile
NM_001007023.3:c.373G>A NP_001007024.1:p.Val125Ile
NM_001242502.1:c.*66G>A NP_001229431.1:n.*66G>A
NM_001242503.1:c.*66G>A NP_001229432.1:n.*66G>A
NM_013989.4:c.265G>A NP_054644.1:p.Val89Ile
NM_000793.6:c.265G>A NP_000784.3:p.Val89Ile
NM_001324462.2:c.265G>A NP_001311391.2:p.Val89Ile
NM_001366496.1:c.265G>A NP_001353425.1:p.Val89Ile
NM_013989.5:c.265G>A MANE Select NP_054644.1:p.Val89Ile
NR_158990.1:n.405G>A
NR_158991.1:n.539G>A
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Search 100 bp 3'