Canonical Allele Identifier: CA7538644

Gene: DUOX2

Linked Data

• dbSNP Id: rs759477611
• ExAC: 15:45400997 A / G
• gnomAD v2: 15-45400997-A-G
• gnomAD v4: 15-45108799-A-G
• MyVariant Identifiers: chr15:g.45400997A>G (hg19) ; chr15:g.45108799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45108799A>G , CM000677.2:g.45108799A>G	GRCh38
NC_000015.9:g.45400997A>G , CM000677.1:g.45400997A>G	GRCh37
NC_000015.8:g.43188289A>G	NCBI36
NG_009447.1:g.10363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.1388T>C MANE Select	ENSP00000373691.7:p.Val463Ala
ENST00000389039.10:c.1388T>C	ENSP00000373691.6:p.Val463Ala
ENST00000558383.1:n.2553T>C
ENST00000603300.1:c.1388T>C	ENSP00000475084.1:p.Val463Ala
NM_014080.4:c.1388T>C	NP_054799.4:p.Val463Ala
XM_005254421.2:c.1388T>C	XP_005254478.1:p.Val463Ala
NM_001363711.1:c.1388T>C	NP_001350640.1:p.Val463Ala
NM_001363711.2:c.1388T>C MANE Select	NP_001350640.1:p.Val463Ala
NM_014080.5:c.1388T>C	NP_054799.4:p.Val463Ala