Canonical Allele Identifier: CA490222761

Gene: DUOX2

Linked Data

• ClinVar Variation Id: 2856362
• ClinVar RCV Id: RCV003696407
• gnomAD v4: 15-45108825-C-T
• MyVariant Identifiers: chr15:g.45401023C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45108825C>T , CM000677.2:g.45108825C>T	GRCh38
NC_000015.9:g.45401023C>T , CM000677.1:g.45401023C>T	GRCh37
NC_000015.8:g.43188315C>T	NCBI36
NG_009447.1:g.10337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.1362G>A MANE Select	ENSP00000373691.7:p.Arg454=
ENST00000389039.10:c.1362G>A	ENSP00000373691.6:p.Arg454=
ENST00000558383.1:n.2527G>A
ENST00000603300.1:c.1362G>A	ENSP00000475084.1:p.Arg454=
NM_014080.4:c.1362G>A	NP_054799.4:p.Arg454=
XM_005254421.2:c.1362G>A	XP_005254478.1:p.Arg454=
NM_001363711.1:c.1362G>A	NP_001350640.1:p.Arg454=
NM_001363711.2:c.1362G>A MANE Select	NP_001350640.1:p.Arg454=
NM_014080.5:c.1362G>A	NP_054799.4:p.Arg454=