Canonical Allele Identifier: CA10654170

Gene: NAGA WBP2NL

Linked Data

• ClinVar Variation Id: 341895
• ClinVar RCV Id: RCV000295309 ; RCV000387189
• dbSNP Id: rs62238588
• gnomAD v2: 22-42455248-C-T
• gnomAD v3: 22-42059244-C-T
• gnomAD v4: 22-42059244-C-T
• MyVariant Identifiers: chr22:g.42455248C>T (hg19) ; chr22:g.42059244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42059244C>T , CM000684.2:g.42059244C>T	GRCh38
NC_000022.10:g.42455248C>T , CM000684.1:g.42455248C>T	GRCh37
NC_000022.9:g.40785194C>T	NCBI36
NG_009247.1:g.16599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396398.8:c.*1035G>A (NAGA) MANE Select	ENSP00000379680.3:n.*1035G>A
ENST00000396398.7:c.*1035G>A (NAGA)	ENSP00000379680.3:n.*1035G>A
NM_000262.2:c.*1035G>A (NAGA)	NP_000253.1:n.*1035G>A
XM_005261615.3:c.*1035G>A (NAGA)	XP_005261672.1:n.*1035G>A
XM_005261616.3:c.*1035G>A (NAGA)	XP_005261673.1:n.*1035G>A
XR_937828.1:n.6051C>T (WBP2NL)
XR_937829.1:n.5631C>T (WBP2NL)
NM_001362848.1:c.*1035G>A (NAGA)	NP_001349777.1:n.*1035G>A
NM_001362850.1:c.*1035G>A (NAGA)	NP_001349779.1:n.*1035G>A
XR_937828.3:n.6294C>T (WBP2NL)
NM_000262.3:c.*1035G>A (NAGA) MANE Select	NP_000253.1:n.*1035G>A