Canonical Allele Identifier: CA2628240992
Gene: DUOX2 HGNC NCBI

Linked Data

gnomAD v4: 15-45103848-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45103848C>A , CM000677.2:g.45103848C>A GRCh38
NC_000015.9:g.45396046C>A , CM000677.1:g.45396046C>A GRCh37
NC_000015.8:g.43183338C>A NCBI36
NG_009447.1:g.15314G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389039.11:c.2654+112G>T MANE Select ENSP00000373691.7:n.2654+112G>T
ENST00000389039.10:c.2654+112G>T ENSP00000373691.6:n.2654+112G>T
ENST00000558383.1:n.4385+112G>T
ENST00000603300.1:c.2654+112G>T ENSP00000475084.1:n.2654+112G>T
NM_014080.4:c.2654+112G>T NP_054799.4:n.2654+112G>T
XM_005254421.2:c.2654+112G>T XP_005254478.1:n.2654+112G>T
NM_001363711.1:c.2654+112G>T NP_001350640.1:n.2654+112G>T
NM_001363711.2:c.2654+112G>T MANE Select NP_001350640.1:n.2654+112G>T
NM_014080.5:c.2654+112G>T NP_054799.4:n.2654+112G>T
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