Canonical Allele Identifier: CA2173940661

Gene: DUOX2

Linked Data

• dbSNP Id: rs1894144824
• gnomAD v4: 15-45103885-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45103885C>G , CM000677.2:g.45103885C>G	GRCh38
NC_000015.9:g.45396083C>G , CM000677.1:g.45396083C>G	GRCh37
NC_000015.8:g.43183375C>G	NCBI36
NG_009447.1:g.15277G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389039.11:c.2654+75G>C MANE Select	ENSP00000373691.7:n.2654+75G>C
ENST00000389039.10:c.2654+75G>C	ENSP00000373691.6:n.2654+75G>C
ENST00000558383.1:n.4385+75G>C
ENST00000603300.1:c.2654+75G>C	ENSP00000475084.1:n.2654+75G>C
NM_014080.4:c.2654+75G>C	NP_054799.4:n.2654+75G>C
XM_005254421.2:c.2654+75G>C	XP_005254478.1:n.2654+75G>C
NM_001363711.1:c.2654+75G>C	NP_001350640.1:n.2654+75G>C
NM_001363711.2:c.2654+75G>C MANE Select	NP_001350640.1:n.2654+75G>C
NM_014080.5:c.2654+75G>C	NP_054799.4:n.2654+75G>C