Canonical Allele Identifier: CA1210319280

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557187C= , CM000663.2:g.179557187C=	GRCh38
NC_000001.10:g.179526322C= , CM000663.1:g.179526322C=	GRCh37
NC_000001.9:g.177792945C=	NCBI36
NG_007535.1:g.23763G= , LRG_887:g.23763G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.578G= MANE Select	ENSP00000356587.4:p.Cys193=
ENST00000367615.8:c.578G=	ENSP00000356587.4:p.Cys193=
ENST00000367616.4:c.534+2492G=	ENSP00000356588.4:n.534+2492G=
NM_001297575.1:c.534+2492G=	NP_001284504.1:n.534+2492G=
NM_014625.3:c.578G= , LRG_887t1:c.578G=	NP_055440.1:p.Cys193=
XM_005245483.2:c.401G=	XP_005245540.1:p.Cys134=
XM_006711529.2:c.578G=	XP_006711592.1:p.Cys193=
XM_005245483.3:c.401G=	XP_005245540.1:p.Cys134=
XM_017002298.1:c.461+2492G=	XP_016857787.1:n.461+2492G=
XM_017002299.1:c.534+2492G=	XP_016857788.1:n.534+2492G=
NM_001297575.2:c.534+2492G=	NP_001284504.1:n.534+2492G=
NM_014625.4:c.578G= MANE Select	NP_055440.1:p.Cys193=