Canonical Allele Identifier: CA7538640
Gene: DUOX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2958607
ClinVar RCV Id: RCV003816830
dbSNP Id: rs781491435
ExAC: 15:45400985 A / G
gnomAD v2: 15-45400985-A-G
gnomAD v4: 15-45108787-A-G
MyVariant Identifiers: chr15:g.45400985A>G (hg19) chr15:g.45108787A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45108787A>G , CM000677.2:g.45108787A>G GRCh38
NC_000015.9:g.45400985A>G , CM000677.1:g.45400985A>G GRCh37
NC_000015.8:g.43188277A>G NCBI36
NG_009447.1:g.10375T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389039.11:c.1398+2T>C MANE Select ENSP00000373691.7:n.1398+2T>C
ENST00000389039.10:c.1398+2T>C ENSP00000373691.6:n.1398+2T>C
ENST00000558383.1:n.2565T>C
ENST00000603300.1:c.1398+2T>C ENSP00000475084.1:n.1398+2T>C
NM_014080.4:c.1398+2T>C NP_054799.4:n.1398+2T>C
XM_005254421.2:c.1398+2T>C XP_005254478.1:n.1398+2T>C
NM_001363711.1:c.1398+2T>C NP_001350640.1:n.1398+2T>C
NM_001363711.2:c.1398+2T>C MANE Select NP_001350640.1:n.1398+2T>C
NM_014080.5:c.1398+2T>C NP_054799.4:n.1398+2T>C
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