Canonical Allele Identifier: CA527598244

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 447876
• ClinVar RCV Id: RCV000005693 ; RCV000516610
• dbSNP Id: rs1320543506
• gnomAD v2: 1-179544895-G-GC
• gnomAD v3: 1-179575760-G-GC
• gnomAD v4: 1-179575760-G-GC
• MyVariant Identifiers: chr1:g.179544896dup (hg19) ; chr1:g.179544895_179544896insC (hg19) ; chr1:g.179575761dup (hg38) ; chr1:g.179575760_179575761insC (hg38)
• PubMed: PMID:10742096 ; PMID:24856380

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575762dup , CM000663.2:g.179575762dup	GRCh38
NC_000001.10:g.179544897dup , CM000663.1:g.179544897dup	GRCh37
NC_000001.9:g.177811520dup	NCBI36
NG_007535.1:g.5189dup , LRG_887:g.5189dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.104dup MANE Select	ENSP00000356587.4:p.Arg36ProfsTer?
ENST00000367615.8:c.104dup	ENSP00000356587.4:p.Arg36ProfsTer?
ENST00000367616.4:c.104dup	ENSP00000356588.4:p.Arg36ProfsTer?
NM_001297575.1:c.104dup	NP_001284504.1:p.Arg36ProfsTer?
NM_014625.3:c.104dup , LRG_887t1:c.104dup	NP_055440.1:p.Arg36ProfsTer?
XM_005245483.2:c.104dup	XP_005245540.1:p.Arg36ProfsTer?
XM_006711529.2:c.104dup	XP_006711592.1:p.Arg36ProfsTer?
XM_005245483.3:c.104dup	XP_005245540.1:p.Arg36ProfsTer?
XM_017002298.1:c.104dup	XP_016857787.1:p.Arg36ProfsTer?
XM_017002299.1:c.104dup	XP_016857788.1:p.Arg36ProfsTer?
NM_001297575.2:c.104dup	NP_001284504.1:p.Arg36ProfsTer?
NM_014625.4:c.104dup MANE Select	NP_055440.1:p.Arg36ProfsTer?