Canonical Allele Identifier: CA7538910

Gene: DUOX2

Linked Data

• ClinVar Variation Id: 316184
• ClinVar RCV Id: RCV000337668 ; RCV000493682
• dbSNP Id: rs190660925
• ExAC: 15:45403764 C / A
• gnomAD v2: 15-45403764-C-A
• gnomAD v3: 15-45111566-C-A
• gnomAD v4: 15-45111566-C-A
• MyVariant Identifiers: chr15:g.45403764C>A (hg19) ; chr15:g.45111566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45111566C>A , CM000677.2:g.45111566C>A	GRCh38
NC_000015.9:g.45403764C>A , CM000677.1:g.45403764C>A	GRCh37
NC_000015.8:g.43191056C>A	NCBI36
NG_009447.1:g.7596G>T
NG_016992.1:g.2242C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.533G>T MANE Select	ENSP00000373691.7:p.Trp178Leu
ENST00000389039.10:c.533G>T	ENSP00000373691.6:p.Trp178Leu
ENST00000558383.1:n.758G>T
ENST00000603300.1:c.533G>T	ENSP00000475084.1:p.Trp178Leu
NM_014080.4:c.533G>T	NP_054799.4:p.Trp178Leu
XM_005254421.2:c.533G>T	XP_005254478.1:p.Trp178Leu
NM_001363711.1:c.533G>T	NP_001350640.1:p.Trp178Leu
NM_001363711.2:c.533G>T MANE Select	NP_001350640.1:p.Trp178Leu
NM_014080.5:c.533G>T	NP_054799.4:p.Trp178Leu