Canonical Allele Identifier: CA7539271

Gene: DUOXA2

Linked Data

• ClinVar Variation Id: 265105
• ClinVar RCV Id: RCV000255221 ; RCV000991175 ; RCV001270332 ; RCV002521850
• dbSNP Id: rs201506037
• ExAC: 15:45408056 T / C
• gnomAD v2: 15-45408056-T-C
• gnomAD v3: 15-45115858-T-C
• gnomAD v4: 15-45115858-T-C
• MyVariant Identifiers: chr15:g.45408056T>C (hg19) ; chr15:g.45115858T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45115858T>C , CM000677.2:g.45115858T>C	GRCh38
NC_000015.9:g.45408056T>C , CM000677.1:g.45408056T>C	GRCh37
NC_000015.8:g.43195348T>C	NCBI36
NG_009447.1:g.3304A>G
NG_016992.1:g.6534T>C
NG_033105.1:g.19020A>G
NG_033105.2:g.19020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323030.6:c.205+2T>C MANE Select	ENSP00000319705.5:n.205+2T>C
ENST00000323030.5:c.205+2T>C	ENSP00000319705.5:n.205+2T>C
ENST00000350243.10:n.485+2T>C
ENST00000491993.2:c.*272+2T>C	ENSP00000454110.1:n.*272+2T>C
NM_207581.3:c.205+2T>C	NP_997464.2:n.205+2T>C
XM_017022180.1:c.205+2T>C	XP_016877669.1:n.205+2T>C
NM_207581.4:c.205+2T>C MANE Select	NP_997464.2:n.205+2T>C