Canonical Allele Identifier: CA490222938

Gene: DUOX2

Linked Data

• MyVariant Identifiers: chr15:g.45401050C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45108852C>A , CM000677.2:g.45108852C>A	GRCh38
NC_000015.9:g.45401050C>A , CM000677.1:g.45401050C>A	GRCh37
NC_000015.8:g.43188342C>A	NCBI36
NG_009447.1:g.10310G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.1335G>T MANE Select	ENSP00000373691.7:p.Leu445=
ENST00000389039.10:c.1335G>T	ENSP00000373691.6:p.Leu445=
ENST00000558383.1:n.2500G>T
ENST00000603300.1:c.1335G>T	ENSP00000475084.1:p.Leu445=
NM_014080.4:c.1335G>T	NP_054799.4:p.Leu445=
XM_005254421.2:c.1335G>T	XP_005254478.1:p.Leu445=
NM_001363711.1:c.1335G>T	NP_001350640.1:p.Leu445=
NM_001363711.2:c.1335G>T MANE Select	NP_001350640.1:p.Leu445=
NM_014080.5:c.1335G>T	NP_054799.4:p.Leu445=