Canonical Allele Identifier: CA2695199925

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 2677350
• ClinVar RCV Id: RCV003471596

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575802dup , CM000663.2:g.179575802dup	GRCh38
NC_000001.10:g.179544937dup , CM000663.1:g.179544937dup	GRCh37
NC_000001.9:g.177811560dup	NCBI36
NG_007535.1:g.5148dup , LRG_887:g.5148dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.63dup MANE Select	ENSP00000356587.4:p.Lys22GlnfsTer?
ENST00000367615.8:c.63dup	ENSP00000356587.4:p.Lys22GlnfsTer?
ENST00000367616.4:c.63dup	ENSP00000356588.4:p.Lys22GlnfsTer?
NM_001297575.1:c.63dup	NP_001284504.1:p.Lys22GlnfsTer?
NM_014625.3:c.63dup , LRG_887t1:c.63dup	NP_055440.1:p.Lys22GlnfsTer?
XM_005245483.2:c.63dup	XP_005245540.1:p.Lys22GlnfsTer?
XM_006711529.2:c.63dup	XP_006711592.1:p.Lys22GlnfsTer?
XM_005245483.3:c.63dup	XP_005245540.1:p.Lys22GlnfsTer?
XM_017002298.1:c.63dup	XP_016857787.1:p.Lys22GlnfsTer?
XM_017002299.1:c.63dup	XP_016857788.1:p.Lys22GlnfsTer?
NM_001297575.2:c.63dup	NP_001284504.1:p.Lys22GlnfsTer?
NM_014625.4:c.63dup MANE Select	NP_055440.1:p.Lys22GlnfsTer?