Canonical Allele Identifier: CA7538237

Gene: DUOX2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45104156C>G , CM000677.2:g.45104156C>G	GRCh38
NC_000015.9:g.45396354C>G , CM000677.1:g.45396354C>G	GRCh37
NC_000015.8:g.43183646C>G	NCBI36
NG_009447.1:g.15006G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001363711.2:c.2544G>C MANE Select	NP_001350640.1:p.Leu848=
ENST00000389039.11:c.2544G>C MANE Select	ENSP00000373691.7:p.Leu848=
NM_001363711.1:c.2544G>C	NP_001350640.1:p.Leu848=
NM_014080.4:c.2544G>C	NP_054799.4:p.Leu848=
NM_014080.5:c.2544G>C	NP_054799.4:p.Leu848=
ENST00000389039.10:c.2544G>C	ENSP00000373691.6:p.Leu848=
ENST00000558383.1:n.4275G>C
ENST00000603300.1:c.2544G>C	ENSP00000475084.1:p.Leu848=
XM_005254421.2:c.2544G>C	XP_005254478.1:p.Leu848=