Canonical Allele Identifier: CA618006627

Gene: DUOX2

Linked Data

• dbSNP Id: rs1327046193
• gnomAD v2: 15-45396086-C-T
• gnomAD v3: 15-45103888-C-T
• gnomAD v4: 15-45103888-C-T
• MyVariant Identifiers: chr15:g.45396086C>T (hg19) ; chr15:g.45103888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45103888C>T , CM000677.2:g.45103888C>T	GRCh38
NC_000015.9:g.45396086C>T , CM000677.1:g.45396086C>T	GRCh37
NC_000015.8:g.43183378C>T	NCBI36
NG_009447.1:g.15274G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389039.11:c.2654+72G>A MANE Select	ENSP00000373691.7:n.2654+72G>A
ENST00000389039.10:c.2654+72G>A	ENSP00000373691.6:n.2654+72G>A
ENST00000558383.1:n.4385+72G>A
ENST00000603300.1:c.2654+72G>A	ENSP00000475084.1:n.2654+72G>A
NM_014080.4:c.2654+72G>A	NP_054799.4:n.2654+72G>A
XM_005254421.2:c.2654+72G>A	XP_005254478.1:n.2654+72G>A
NM_001363711.1:c.2654+72G>A	NP_001350640.1:n.2654+72G>A
NM_001363711.2:c.2654+72G>A MANE Select	NP_001350640.1:n.2654+72G>A
NM_014080.5:c.2654+72G>A	NP_054799.4:n.2654+72G>A