Canonical Allele Identifier: CA7538475

Gene: DUOX2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45106637A>G , CM000677.2:g.45106637A>G	GRCh38
NC_000015.9:g.45398835A>G , CM000677.1:g.45398835A>G	GRCh37
NC_000015.8:g.43186127A>G	NCBI36
NG_009447.1:g.12525T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001363711.2:c.1836T>C MANE Select	NP_001350640.1:p.Ser612=
ENST00000389039.11:c.1836T>C MANE Select	ENSP00000373691.7:p.Ser612=
NM_001363711.1:c.1836T>C	NP_001350640.1:p.Ser612=
NM_014080.4:c.1836T>C	NP_054799.4:p.Ser612=
NM_014080.5:c.1836T>C	NP_054799.4:p.Ser612=
ENST00000389039.10:c.1836T>C	ENSP00000373691.6:p.Ser612=
ENST00000558383.1:n.3567T>C
ENST00000603300.1:c.1836T>C	ENSP00000475084.1:p.Ser612=
XM_005254421.2:c.1836T>C	XP_005254478.1:p.Ser612=