Canonical Allele Identifier: CA7538660
Gene: DUOX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1408326
ClinVar RCV Id: RCV001909915
dbSNP Id: rs777851279
ExAC: 15:45401077 C / T
gnomAD v2: 15-45401077-C-T
gnomAD v3: 15-45108879-C-T
gnomAD v4: 15-45108879-C-T
MyVariant Identifiers: chr15:g.45401077C>T (hg19) chr15:g.45108879C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45108879C>T , CM000677.2:g.45108879C>T GRCh38
NC_000015.9:g.45401077C>T , CM000677.1:g.45401077C>T GRCh37
NC_000015.8:g.43188369C>T NCBI36
NG_009447.1:g.10283G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389039.11:c.1308G>A MANE Select ENSP00000373691.7:p.Met436Ile
ENST00000389039.10:c.1308G>A ENSP00000373691.6:p.Met436Ile
ENST00000558383.1:n.2473G>A
ENST00000603300.1:c.1308G>A ENSP00000475084.1:p.Met436Ile
NM_014080.4:c.1308G>A NP_054799.4:p.Met436Ile
XM_005254421.2:c.1308G>A XP_005254478.1:p.Met436Ile
NM_001363711.1:c.1308G>A NP_001350640.1:p.Met436Ile
NM_001363711.2:c.1308G>A MANE Select NP_001350640.1:p.Met436Ile
NM_014080.5:c.1308G>A NP_054799.4:p.Met436Ile
Search 100 bp 5'
Search 100 bp 3'