Canonical Allele Identifier: CA7539453

Gene: DUOXA2

Linked Data

• ClinVar Variation Id: 263306
• ClinVar RCV Id: RCV000243123 ; RCV000604729 ; RCV001651296
• dbSNP Id: rs955152
• ExAC: 15:45409271 C / T
• gnomAD v2: 15-45409271-C-T
• gnomAD v3: 15-45117073-C-T
• gnomAD v4: 15-45117073-C-T
• MyVariant Identifiers: chr15:g.45409271C>T (hg19) ; chr15:g.45117073C>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45117073C>T , CM000677.2:g.45117073C>T	GRCh38
NC_000015.9:g.45409271C>T , CM000677.1:g.45409271C>T	GRCh37
NC_000015.8:g.43196563C>T	NCBI36
NG_009447.1:g.2089G>A
NG_016992.1:g.7749C>T
NG_033105.1:g.17805G>A
NG_033105.2:g.17805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323030.6:c.555-18C>T MANE Select	ENSP00000319705.5:n.555-18C>T
ENST00000323030.5:c.555-18C>T	ENSP00000319705.5:n.555-18C>T
ENST00000350243.10:n.1178C>T
ENST00000491993.2:c.*622-18C>T	ENSP00000454110.1:n.*622-18C>T
NM_207581.3:c.555-18C>T	NP_997464.2:n.555-18C>T
XM_017022180.1:c.606-18C>T	XP_016877669.1:n.606-18C>T
NM_207581.4:c.555-18C>T MANE Select	NP_997464.2:n.555-18C>T