Canonical Allele Identifier: CA392276912
Gene: DUOX2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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