Canonical Allele Identifier: CA7538654

Gene: DUOX2

Linked Data

• ClinVar Variation Id: 2969855
• ClinVar RCV Id: RCV003821989
• dbSNP Id: rs374156510
• ExAC: 15:45401059 G / A
• gnomAD v2: 15-45401059-G-A
• gnomAD v3: 15-45108861-G-A
• gnomAD v4: 15-45108861-G-A
• MyVariant Identifiers: chr15:g.45401059G>A (hg19) ; chr15:g.45108861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45108861G>A , CM000677.2:g.45108861G>A	GRCh38
NC_000015.9:g.45401059G>A , CM000677.1:g.45401059G>A	GRCh37
NC_000015.8:g.43188351G>A	NCBI36
NG_009447.1:g.10301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.1326C>T MANE Select	ENSP00000373691.7:p.Ser442=
ENST00000389039.10:c.1326C>T	ENSP00000373691.6:p.Ser442=
ENST00000558383.1:n.2491C>T
ENST00000603300.1:c.1326C>T	ENSP00000475084.1:p.Ser442=
NM_014080.4:c.1326C>T	NP_054799.4:p.Ser442=
XM_005254421.2:c.1326C>T	XP_005254478.1:p.Ser442=
NM_001363711.1:c.1326C>T	NP_001350640.1:p.Ser442=
NM_001363711.2:c.1326C>T MANE Select	NP_001350640.1:p.Ser442=
NM_014080.5:c.1326C>T	NP_054799.4:p.Ser442=