Canonical Allele Identifier: CA7538656
Gene: DUOX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 741799
ClinVar RCV Id: RCV000917999
dbSNP Id: rs755292404
ExAC: 15:45401068 G / C
gnomAD v2: 15-45401068-G-C
gnomAD v4: 15-45108870-G-C
MyVariant Identifiers: chr15:g.45401068G>C (hg19) chr15:g.45108870G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45108870G>C , CM000677.2:g.45108870G>C GRCh38
NC_000015.9:g.45401068G>C , CM000677.1:g.45401068G>C GRCh37
NC_000015.8:g.43188360G>C NCBI36
NG_009447.1:g.10292C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389039.11:c.1317C>G MANE Select ENSP00000373691.7:p.Pro439=
ENST00000389039.10:c.1317C>G ENSP00000373691.6:p.Pro439=
ENST00000558383.1:n.2482C>G
ENST00000603300.1:c.1317C>G ENSP00000475084.1:p.Pro439=
NM_014080.4:c.1317C>G NP_054799.4:p.Pro439=
XM_005254421.2:c.1317C>G XP_005254478.1:p.Pro439=
NM_001363711.1:c.1317C>G NP_001350640.1:p.Pro439=
NM_001363711.2:c.1317C>G MANE Select NP_001350640.1:p.Pro439=
NM_014080.5:c.1317C>G NP_054799.4:p.Pro439=
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