Canonical Allele Identifier: CA7538655
Gene: DUOX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1508443
ClinVar RCV Id: RCV002040416
dbSNP Id: rs751971675
ExAC: 15:45401060 C / T
gnomAD v2: 15-45401060-C-T
gnomAD v4: 15-45108862-C-T
MyVariant Identifiers: chr15:g.45401060C>T (hg19) chr15:g.45108862C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45108862C>T , CM000677.2:g.45108862C>T GRCh38
NC_000015.9:g.45401060C>T , CM000677.1:g.45401060C>T GRCh37
NC_000015.8:g.43188352C>T NCBI36
NG_009447.1:g.10300G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389039.11:c.1325G>A MANE Select ENSP00000373691.7:p.Ser442Asn
ENST00000389039.10:c.1325G>A ENSP00000373691.6:p.Ser442Asn
ENST00000558383.1:n.2490G>A
ENST00000603300.1:c.1325G>A ENSP00000475084.1:p.Ser442Asn
NM_014080.4:c.1325G>A NP_054799.4:p.Ser442Asn
XM_005254421.2:c.1325G>A XP_005254478.1:p.Ser442Asn
NM_001363711.1:c.1325G>A NP_001350640.1:p.Ser442Asn
NM_001363711.2:c.1325G>A MANE Select NP_001350640.1:p.Ser442Asn
NM_014080.5:c.1325G>A NP_054799.4:p.Ser442Asn
Search 100 bp 5'
Search 100 bp 3'