Canonical Allele Identifier: CA1140407276

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557179G= , CM000663.2:g.179557179G=	GRCh38
NC_000001.10:g.179526314G= , CM000663.1:g.179526314G=	GRCh37
NC_000001.9:g.177792937G=	NCBI36
NG_007535.1:g.23771C= , LRG_887:g.23771C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.586C= MANE Select	ENSP00000356587.4:p.Arg196=
ENST00000367615.8:c.586C=	ENSP00000356587.4:p.Arg196=
ENST00000367616.4:c.534+2500C=	ENSP00000356588.4:n.534+2500C=
NM_001297575.1:c.534+2500C=	NP_001284504.1:n.534+2500C=
NM_014625.3:c.586C= , LRG_887t1:c.586C=	NP_055440.1:p.Arg196=
XM_005245483.2:c.409C=	XP_005245540.1:p.Arg137=
XM_006711529.2:c.586C=	XP_006711592.1:p.Arg196=
XM_005245483.3:c.409C=	XP_005245540.1:p.Arg137=
XM_017002298.1:c.461+2500C=	XP_016857787.1:n.461+2500C=
XM_017002299.1:c.534+2500C=	XP_016857788.1:n.534+2500C=
NM_001297575.2:c.534+2500C=	NP_001284504.1:n.534+2500C=
NM_014625.4:c.586C= MANE Select	NP_055440.1:p.Arg196=