Canonical Allele Identifier: CA7538002

Gene: DUOX2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45100107C>T , CM000677.2:g.45100107C>T	GRCh38
NC_000015.9:g.45392305C>T , CM000677.1:g.45392305C>T	GRCh37
NC_000015.8:g.43179597C>T	NCBI36
NG_009447.1:g.19055G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001363711.2:c.3127G>A MANE Select	NP_001350640.1:p.Val1043Met
ENST00000389039.11:c.3127G>A MANE Select	ENSP00000373691.7:p.Val1043Met
NM_001363711.1:c.3127G>A	NP_001350640.1:p.Val1043Met
NM_014080.4:c.3127G>A	NP_054799.4:p.Val1043Met
NM_014080.5:c.3127G>A	NP_054799.4:p.Val1043Met
ENST00000389039.10:c.3127G>A	ENSP00000373691.6:p.Val1043Met
ENST00000558383.1:n.5742G>A
ENST00000560797.1:n.307G>A
ENST00000603300.1:c.3127G>A	ENSP00000475084.1:p.Val1043Met
XM_005254421.2:c.3127G>A	XP_005254478.1:p.Val1043Met