Canonical Allele Identifier: CA270127853

Gene: DUOX2

Linked Data

• dbSNP Id: rs1055997284
• gnomAD v4: 15-45103967-T-C
• MyVariant Identifiers: chr15:g.45396165T>C (hg19) ; chr15:g.45103967T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45103967T>C , CM000677.2:g.45103967T>C	GRCh38
NC_000015.9:g.45396165T>C , CM000677.1:g.45396165T>C	GRCh37
NC_000015.8:g.43183457T>C	NCBI36
NG_009447.1:g.15195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.2647A>G MANE Select	ENSP00000373691.7:p.Met883Val
ENST00000389039.10:c.2647A>G	ENSP00000373691.6:p.Met883Val
ENST00000558383.1:n.4378A>G
ENST00000603300.1:c.2647A>G	ENSP00000475084.1:p.Met883Val
NM_014080.4:c.2647A>G	NP_054799.4:p.Met883Val
XM_005254421.2:c.2647A>G	XP_005254478.1:p.Met883Val
NM_001363711.1:c.2647A>G	NP_001350640.1:p.Met883Val
NM_001363711.2:c.2647A>G MANE Select	NP_001350640.1:p.Met883Val
NM_014080.5:c.2647A>G	NP_054799.4:p.Met883Val