Canonical Allele Identifier: CA7539391

Gene: DUOXA2

Linked Data

• ClinVar Variation Id: 225344
• ClinVar RCV Id: RCV000490516
• dbSNP Id: rs778410503
• ExAC: 15:45408785 T / TA
• gnomAD v2: 15-45408785-T-TA
• gnomAD v3: 15-45116587-T-TA
• gnomAD v4: 15-45116587-T-TA
• COSMIC: COSM3726863
• MyVariant Identifiers: chr15:g.45408786dupA (hg19) ; chr15:g.45408785_45408786insA (hg19) ; chr15:g.45116588dupA (hg38) ; chr15:g.45116587_45116588insA (hg38)
• PubMed: PMID:18042646 ; PMID:23292166

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45116588dup , CM000677.2:g.45116588dup	GRCh38
NC_000015.9:g.45408786dup , CM000677.1:g.45408786dup	GRCh37
NC_000015.8:g.43196078dup	NCBI36
NG_009447.1:g.2574dup
NG_016992.1:g.7264dup
NG_033105.1:g.18290dup
NG_033105.2:g.18290dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323030.6:c.413dup MANE Select	ENSP00000319705.5:p.Tyr138Ter
ENST00000323030.5:c.413dup	ENSP00000319705.5:p.Tyr138Ter
ENST00000350243.10:n.693dup
ENST00000491993.2:c.*480dup	ENSP00000454110.1:n.*480dup
NM_207581.3:c.413dup	NP_997464.2:p.Tyr138Ter
XM_017022180.1:c.464dup	XP_016877669.1:p.Tyr155Ter
NM_207581.4:c.413dup MANE Select	NP_997464.2:p.Tyr138Ter