Canonical Allele Identifier: CA7539366

Gene: DUOXA2

Linked Data

• ClinVar Variation Id: 263303
• ClinVar RCV Id: RCV000241784 ; RCV000603289
• dbSNP Id: rs2252371
• ExAC: 15:45408699 C / T
• gnomAD v2: 15-45408699-C-T
• gnomAD v3: 15-45116501-C-T
• gnomAD v4: 15-45116501-C-T
• MyVariant Identifiers: chr15:g.45408699C>T (hg19) ; chr15:g.45116501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45116501C>T , CM000677.2:g.45116501C>T	GRCh38
NC_000015.9:g.45408699C>T , CM000677.1:g.45408699C>T	GRCh37
NC_000015.8:g.43195991C>T	NCBI36
NG_009447.1:g.2661G>A
NG_016992.1:g.7177C>T
NG_033105.1:g.18377G>A
NG_033105.2:g.18377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323030.6:c.341-15C>T MANE Select	ENSP00000319705.5:n.341-15C>T
ENST00000323030.5:c.341-15C>T	ENSP00000319705.5:n.341-15C>T
ENST00000350243.10:n.621-15C>T
ENST00000491993.2:c.*408-15C>T	ENSP00000454110.1:n.*408-15C>T
NM_207581.3:c.341-15C>T	NP_997464.2:n.341-15C>T
XM_017022180.1:c.377C>T	XP_016877669.1:p.Pro126Leu
NM_207581.4:c.341-15C>T MANE Select	NP_997464.2:n.341-15C>T