Canonical Allele Identifier: CA618006628

Gene: DUOX2

Linked Data

• dbSNP Id: rs896002759
• gnomAD v2: 15-45396098-C-A
• gnomAD v3: 15-45103900-C-A
• gnomAD v4: 15-45103900-C-A
• MyVariant Identifiers: chr15:g.45396098C>A (hg19) ; chr15:g.45103900C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45103900C>A , CM000677.2:g.45103900C>A	GRCh38
NC_000015.9:g.45396098C>A , CM000677.1:g.45396098C>A	GRCh37
NC_000015.8:g.43183390C>A	NCBI36
NG_009447.1:g.15262G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389039.11:c.2654+60G>T MANE Select	ENSP00000373691.7:n.2654+60G>T
ENST00000389039.10:c.2654+60G>T	ENSP00000373691.6:n.2654+60G>T
ENST00000558383.1:n.4385+60G>T
ENST00000603300.1:c.2654+60G>T	ENSP00000475084.1:n.2654+60G>T
NM_014080.4:c.2654+60G>T	NP_054799.4:n.2654+60G>T
XM_005254421.2:c.2654+60G>T	XP_005254478.1:n.2654+60G>T
NM_001363711.1:c.2654+60G>T	NP_001350640.1:n.2654+60G>T
NM_001363711.2:c.2654+60G>T MANE Select	NP_001350640.1:n.2654+60G>T
NM_014080.5:c.2654+60G>T	NP_054799.4:n.2654+60G>T