Canonical Allele Identifier: CA7538040

Gene: DUOX2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45100230T>C , CM000677.2:g.45100230T>C	GRCh38
NC_000015.9:g.45392428T>C , CM000677.1:g.45392428T>C	GRCh37
NC_000015.8:g.43179720T>C	NCBI36
NG_009447.1:g.18932A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001363711.2:c.3006-2A>G MANE Select	NP_001350640.1:n.3006-2A>G
ENST00000389039.11:c.3006-2A>G MANE Select	ENSP00000373691.7:n.3006-2A>G
NM_001363711.1:c.3006-2A>G	NP_001350640.1:n.3006-2A>G
NM_014080.4:c.3006-2A>G	NP_054799.4:n.3006-2A>G
NM_014080.5:c.3006-2A>G	NP_054799.4:n.3006-2A>G
ENST00000389039.10:c.3006-2A>G	ENSP00000373691.6:n.3006-2A>G
ENST00000558383.1:n.5621-2A>G
ENST00000560797.1:n.184A>G
ENST00000603300.1:c.3006-2A>G	ENSP00000475084.1:n.3006-2A>G
XM_005254421.2:c.3006-2A>G	XP_005254478.1:n.3006-2A>G