Canonical Allele Identifier: CA713139096

Gene: DUOX2

Linked Data

• dbSNP Id: rs1409872506
• gnomAD v4: 15-45103894-A-C
• MyVariant Identifiers: chr15:g.45396092A>C (hg19) ; chr15:g.45103894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45103894A>C , CM000677.2:g.45103894A>C	GRCh38
NC_000015.9:g.45396092A>C , CM000677.1:g.45396092A>C	GRCh37
NC_000015.8:g.43183384A>C	NCBI36
NG_009447.1:g.15268T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389039.11:c.2654+66T>G MANE Select	ENSP00000373691.7:n.2654+66T>G
ENST00000389039.10:c.2654+66T>G	ENSP00000373691.6:n.2654+66T>G
ENST00000558383.1:n.4385+66T>G
ENST00000603300.1:c.2654+66T>G	ENSP00000475084.1:n.2654+66T>G
NM_014080.4:c.2654+66T>G	NP_054799.4:n.2654+66T>G
XM_005254421.2:c.2654+66T>G	XP_005254478.1:n.2654+66T>G
NM_001363711.1:c.2654+66T>G	NP_001350640.1:n.2654+66T>G
NM_001363711.2:c.2654+66T>G MANE Select	NP_001350640.1:n.2654+66T>G
NM_014080.5:c.2654+66T>G	NP_054799.4:n.2654+66T>G