Canonical Allele Identifier: CA392263788

Gene: DUOX2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45100149G>A , CM000677.2:g.45100149G>A	GRCh38
NC_000015.9:g.45392347G>A , CM000677.1:g.45392347G>A	GRCh37
NC_000015.8:g.43179639G>A	NCBI36
NG_009447.1:g.19013C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001363711.2:c.3085C>T MANE Select	NP_001350640.1:p.Gln1029Ter
ENST00000389039.11:c.3085C>T MANE Select	ENSP00000373691.7:p.Gln1029Ter
NM_001363711.1:c.3085C>T	NP_001350640.1:p.Gln1029Ter
NM_014080.4:c.3085C>T	NP_054799.4:p.Gln1029Ter
NM_014080.5:c.3085C>T	NP_054799.4:p.Gln1029Ter
ENST00000389039.10:c.3085C>T	ENSP00000373691.6:p.Gln1029Ter
ENST00000558383.1:n.5700C>T
ENST00000560797.1:n.265C>T
ENST00000603300.1:c.3085C>T	ENSP00000475084.1:p.Gln1029Ter
XM_005254421.2:c.3085C>T	XP_005254478.1:p.Gln1029Ter