Canonical Allele Identifier: CA7538648

Gene: DUOX2

Linked Data

• dbSNP Id: rs763703411
• ExAC: 15:45401015 C / T
• gnomAD v4: 15-45108817-C-T
• MyVariant Identifiers: chr15:g.45401015C>T (hg19) ; chr15:g.45108817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45108817C>T , CM000677.2:g.45108817C>T	GRCh38
NC_000015.9:g.45401015C>T , CM000677.1:g.45401015C>T	GRCh37
NC_000015.8:g.43188307C>T	NCBI36
NG_009447.1:g.10345G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389039.11:c.1370G>A MANE Select	ENSP00000373691.7:p.Ser457Asn
ENST00000389039.10:c.1370G>A	ENSP00000373691.6:p.Ser457Asn
ENST00000558383.1:n.2535G>A
ENST00000603300.1:c.1370G>A	ENSP00000475084.1:p.Ser457Asn
NM_014080.4:c.1370G>A	NP_054799.4:p.Ser457Asn
XM_005254421.2:c.1370G>A	XP_005254478.1:p.Ser457Asn
NM_001363711.1:c.1370G>A	NP_001350640.1:p.Ser457Asn
NM_001363711.2:c.1370G>A MANE Select	NP_001350640.1:p.Ser457Asn
NM_014080.5:c.1370G>A	NP_054799.4:p.Ser457Asn