Canonical Allele Identifier: CA2173940584

Gene: DUOX2

Linked Data

• dbSNP Id: rs1595523459

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45103788A>C , CM000677.2:g.45103788A>C	GRCh38
NC_000015.9:g.45395986A>C , CM000677.1:g.45395986A>C	GRCh37
NC_000015.8:g.43183278A>C	NCBI36
NG_009447.1:g.15374T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.2654+172T>G MANE Select	ENSP00000373691.7:n.2654+172T>G
ENST00000389039.10:c.2654+172T>G	ENSP00000373691.6:n.2654+172T>G
ENST00000558383.1:n.4385+172T>G
ENST00000603300.1:c.2654+172T>G	ENSP00000475084.1:n.2654+172T>G
NM_014080.4:c.2654+172T>G	NP_054799.4:n.2654+172T>G
XM_005254421.2:c.2654+172T>G	XP_005254478.1:n.2654+172T>G
NM_001363711.1:c.2654+172T>G	NP_001350640.1:n.2654+172T>G
NM_001363711.2:c.2654+172T>G MANE Select	NP_001350640.1:n.2654+172T>G
NM_014080.5:c.2654+172T>G	NP_054799.4:n.2654+172T>G