Canonical Allele Identifier: CA1210319228

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557027C= , CM000663.2:g.179557027C=	GRCh38
NC_000001.10:g.179526162C= , CM000663.1:g.179526162C=	GRCh37
NC_000001.9:g.177792785C=	NCBI36
NG_007535.1:g.23923G= , LRG_887:g.23923G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738G= MANE Select	ENSP00000356587.4:p.Lys246=
ENST00000367615.8:c.738G=	ENSP00000356587.4:p.Lys246=
ENST00000367616.4:c.535-2496G=	ENSP00000356588.4:n.535-2496G=
NM_001297575.1:c.535-2496G=	NP_001284504.1:n.535-2496G=
NM_014625.3:c.738G= , LRG_887t1:c.738G=	NP_055440.1:p.Lys246=
XM_005245483.2:c.561G=	XP_005245540.1:p.Lys187=
XM_006711529.2:c.738G=	XP_006711592.1:p.Lys246=
XM_005245483.3:c.561G=	XP_005245540.1:p.Lys187=
XM_017002298.1:c.461+2652G=	XP_016857787.1:n.461+2652G=
XM_017002299.1:c.534+2652G=	XP_016857788.1:n.534+2652G=
NM_001297575.2:c.535-2496G=	NP_001284504.1:n.535-2496G=
NM_014625.4:c.738G= MANE Select	NP_055440.1:p.Lys246=