Canonical Allele Identifier: CA10653603

Gene: NAGA WBP2NL

Linked Data

• ClinVar Variation Id: 341886
• ClinVar RCV Id: RCV000347831 ; RCV000395216
• dbSNP Id: rs80313011
• gnomAD v2: 22-42454469-G-A
• gnomAD v3: 22-42058465-G-A
• gnomAD v4: 22-42058465-G-A
• MyVariant Identifiers: chr22:g.42454469G>A (hg19) ; chr22:g.42058465G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42058465G>A , CM000684.2:g.42058465G>A	GRCh38
NC_000022.10:g.42454469G>A , CM000684.1:g.42454469G>A	GRCh37
NC_000022.9:g.40784415G>A	NCBI36
NG_009247.1:g.17378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.*1814C>T (NAGA) MANE Select	ENSP00000379680.3:n.*1814C>T
ENST00000396398.7:c.*1814C>T (NAGA)	ENSP00000379680.3:n.*1814C>T
NM_000262.2:c.*1814C>T (NAGA)	NP_000253.1:n.*1814C>T
XM_005261615.3:c.*1814C>T (NAGA)	XP_005261672.1:n.*1814C>T
XM_005261616.3:c.*1814C>T (NAGA)	XP_005261673.1:n.*1814C>T
XR_937828.1:n.5272G>A (WBP2NL)
XR_937829.1:n.4852G>A (WBP2NL)
NM_001362848.1:c.*1814C>T (NAGA)	NP_001349777.1:n.*1814C>T
NM_001362850.1:c.*1814C>T (NAGA)	NP_001349779.1:n.*1814C>T
XR_937828.3:n.5515G>A (WBP2NL)
NM_000262.3:c.*1814C>T (NAGA) MANE Select	NP_000253.1:n.*1814C>T