Canonical Allele Identifier: CA392276902

Gene: DUOX2

Linked Data

• MyVariant Identifiers: chr15:g.45401072A>T (hg19) ; chr15:g.45108874A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45108874A>T , CM000677.2:g.45108874A>T	GRCh38
NC_000015.9:g.45401072A>T , CM000677.1:g.45401072A>T	GRCh37
NC_000015.8:g.43188364A>T	NCBI36
NG_009447.1:g.10288T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.1313T>A MANE Select	ENSP00000373691.7:p.Leu438Gln
ENST00000389039.10:c.1313T>A	ENSP00000373691.6:p.Leu438Gln
ENST00000558383.1:n.2478T>A
ENST00000603300.1:c.1313T>A	ENSP00000475084.1:p.Leu438Gln
NM_014080.4:c.1313T>A	NP_054799.4:p.Leu438Gln
XM_005254421.2:c.1313T>A	XP_005254478.1:p.Leu438Gln
NM_001363711.1:c.1313T>A	NP_001350640.1:p.Leu438Gln
NM_001363711.2:c.1313T>A MANE Select	NP_001350640.1:p.Leu438Gln
NM_014080.5:c.1313T>A	NP_054799.4:p.Leu438Gln