Canonical Allele Identifier: CA270133699

Gene: DUOX2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45111501_45111502delinsTG , CM000677.2:g.45111501_45111502delinsTG	GRCh38
NC_000015.9:g.45403699_45403700delinsTG , CM000677.1:g.45403699_45403700delinsTG	GRCh37
NC_000015.8:g.43190991_43190992delinsTG	NCBI36
NG_009447.1:g.7660_7661delinsCA
NG_016992.1:g.2177_2178delinsTG

Transcript Alleles

HGVS	Amino-acid Change
NM_001363711.2:c.597_598delinsCA MANE Select	NP_001350640.1:p.Gly200Arg
ENST00000389039.11:c.597_598delinsCA MANE Select	ENSP00000373691.7:p.Gly200Arg
NM_001363711.1:c.597_598delinsCA	NP_001350640.1:p.Gly200Arg
NM_014080.4:c.597_598delinsCA	NP_054799.4:p.Gly200Arg
NM_014080.5:c.597_598delinsCA	NP_054799.4:p.Gly200Arg
ENST00000389039.10:c.597_598delinsCA	ENSP00000373691.6:p.Gly200Arg
ENST00000558383.1:n.822_823delinsCA
ENST00000603300.1:c.597_598delinsCA	ENSP00000475084.1:p.Gly200Arg
XM_005254421.2:c.597_598delinsCA	XP_005254478.1:p.Gly200Arg