Canonical Allele Identifier: CA2803990094

Gene: DUOX2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45103822A>C , CM000677.2:g.45103822A>C	GRCh38
NC_000015.9:g.45396020A>C , CM000677.1:g.45396020A>C	GRCh37
NC_000015.8:g.43183312A>C	NCBI36
NG_009447.1:g.15340T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.2654+138T>G MANE Select	ENSP00000373691.7:n.2654+138T>G
ENST00000389039.10:c.2654+138T>G	ENSP00000373691.6:n.2654+138T>G
ENST00000558383.1:n.4385+138T>G
ENST00000603300.1:c.2654+138T>G	ENSP00000475084.1:n.2654+138T>G
NM_014080.4:c.2654+138T>G	NP_054799.4:n.2654+138T>G
XM_005254421.2:c.2654+138T>G	XP_005254478.1:n.2654+138T>G
NM_001363711.1:c.2654+138T>G	NP_001350640.1:n.2654+138T>G
NM_001363711.2:c.2654+138T>G MANE Select	NP_001350640.1:n.2654+138T>G
NM_014080.5:c.2654+138T>G	NP_054799.4:n.2654+138T>G