Canonical Allele Identifier: CA7538659
Gene: DUOX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 915462
ClinVar RCV Id: RCV001170071 RCV001873569
dbSNP Id: rs769796932
ExAC: 15:45401075 C / G
gnomAD v2: 15-45401075-C-G
gnomAD v3: 15-45108877-C-G
gnomAD v4: 15-45108877-C-G
MyVariant Identifiers: chr15:g.45401075C>G (hg19) chr15:g.45108877C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45108877C>G , CM000677.2:g.45108877C>G GRCh38
NC_000015.9:g.45401075C>G , CM000677.1:g.45401075C>G GRCh37
NC_000015.8:g.43188367C>G NCBI36
NG_009447.1:g.10285G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389039.11:c.1310G>C MANE Select ENSP00000373691.7:p.Gly437Ala
ENST00000389039.10:c.1310G>C ENSP00000373691.6:p.Gly437Ala
ENST00000558383.1:n.2475G>C
ENST00000603300.1:c.1310G>C ENSP00000475084.1:p.Gly437Ala
NM_014080.4:c.1310G>C NP_054799.4:p.Gly437Ala
XM_005254421.2:c.1310G>C XP_005254478.1:p.Gly437Ala
NM_001363711.1:c.1310G>C NP_001350640.1:p.Gly437Ala
NM_001363711.2:c.1310G>C MANE Select NP_001350640.1:p.Gly437Ala
NM_014080.5:c.1310G>C NP_054799.4:p.Gly437Ala
Search 100 bp 5'
Search 100 bp 3'