Canonical Allele Identifier: CA7539405

Gene: DUOXA2

Linked Data

• ClinVar Variation Id: 372358
• ClinVar RCV Id: RCV000413175 ; RCV000930689 ; RCV001270333 ; RCV002523906 ; RCV003922669
• dbSNP Id: rs201808443
• ExAC: 15:45408836 C / G
• gnomAD v2: 15-45408836-C-G
• gnomAD v3: 15-45116638-C-G
• gnomAD v4: 15-45116638-C-G
• MyVariant Identifiers: chr15:g.45408836C>G (hg19) ; chr15:g.45116638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45116638C>G , CM000677.2:g.45116638C>G	GRCh38
NC_000015.9:g.45408836C>G , CM000677.1:g.45408836C>G	GRCh37
NC_000015.8:g.43196128C>G	NCBI36
NG_009447.1:g.2524G>C
NG_016992.1:g.7314C>G
NG_033105.1:g.18240G>C
NG_033105.2:g.18240G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323030.6:c.463C>G MANE Select	ENSP00000319705.5:p.Leu155Val
ENST00000323030.5:c.463C>G	ENSP00000319705.5:p.Leu155Val
ENST00000350243.10:n.743C>G
ENST00000491993.2:c.*530C>G	ENSP00000454110.1:n.*530C>G
NM_207581.3:c.463C>G	NP_997464.2:p.Leu155Val
XM_017022180.1:c.514C>G	XP_016877669.1:p.Leu172Val
NM_207581.4:c.463C>G MANE Select	NP_997464.2:p.Leu155Val