Canonical Allele Identifier: CA390765053

Gene: DIO2

Linked Data

• dbSNP Id: rs1367614813
• gnomAD v2: 14-80669413-C-T
• gnomAD v4: 14-80203070-C-T
• MyVariant Identifiers: chr14:g.80669413C>T (hg19) ; chr14:g.80203070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80203070C>T , CM000676.2:g.80203070C>T	GRCh38
NC_000014.8:g.80669413C>T , CM000676.1:g.80669413C>T	GRCh37
NC_000014.7:g.79739166C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438257.9:c.441G>A MANE Select	ENSP00000405854.5:p.Val147=
ENST00000555750.2:c.*279G>A	ENSP00000450980.2:n.*279G>A
ENST00000422005.7:c.*242G>A	ENSP00000411438.4:n.*242G>A
ENST00000438257.8:c.441G>A	ENSP00000405854.4:p.Val147=
ENST00000555750.1:c.549G>A	ENSP00000450980.1:p.Val183=
ENST00000555844.1:c.525G>A
ENST00000556811.5:c.417G>A
ENST00000557010.5:c.441G>A	ENSP00000451419.1:p.Val147=
ENST00000557125.1:c.65G>A	ENSP00000450547.1:p.Trp22Ter
NM_000793.5:c.441G>A	NP_000784.2:p.Val147=
NM_001007023.3:c.549G>A	NP_001007024.1:p.Val183=
NM_001242502.1:c.*242G>A	NP_001229431.1:n.*242G>A
NM_001242503.1:c.*242G>A	NP_001229432.1:n.*242G>A
NM_013989.4:c.441G>A	NP_054644.1:p.Val147=
NM_000793.6:c.441G>A	NP_000784.3:p.Val147=
NM_001324462.2:c.441G>A	NP_001311391.2:p.Val147=
NM_001366496.1:c.441G>A	NP_001353425.1:p.Val147=
NM_013989.5:c.441G>A MANE Select	NP_054644.1:p.Val147=
NR_158990.1:n.581G>A
NR_158991.1:n.715G>A