Canonical Allele Identifier: CA2575710617
Gene: DUOX2 HGNC NCBI

Linked Data

gnomAD v4: 15-45103898-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45103898G>T , CM000677.2:g.45103898G>T GRCh38
NC_000015.9:g.45396096G>T , CM000677.1:g.45396096G>T GRCh37
NC_000015.8:g.43183388G>T NCBI36
NG_009447.1:g.15264C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389039.11:c.2654+62C>A MANE Select ENSP00000373691.7:n.2654+62C>A
ENST00000389039.10:c.2654+62C>A ENSP00000373691.6:n.2654+62C>A
ENST00000558383.1:n.4385+62C>A
ENST00000603300.1:c.2654+62C>A ENSP00000475084.1:n.2654+62C>A
NM_014080.4:c.2654+62C>A NP_054799.4:n.2654+62C>A
XM_005254421.2:c.2654+62C>A XP_005254478.1:n.2654+62C>A
NM_001363711.1:c.2654+62C>A NP_001350640.1:n.2654+62C>A
NM_001363711.2:c.2654+62C>A MANE Select NP_001350640.1:n.2654+62C>A
NM_014080.5:c.2654+62C>A NP_054799.4:n.2654+62C>A
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