Canonical Allele Identifier: CA1210319031

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556547G= , CM000663.2:g.179556547G=	GRCh38
NC_000001.10:g.179525682G= , CM000663.1:g.179525682G=	GRCh37
NC_000001.9:g.177792305G=	NCBI36
NG_007535.1:g.24403C= , LRG_887:g.24403C=
NG_033075.1:g.195828G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+480C= MANE Select	ENSP00000356587.4:n.738+480C=
ENST00000367615.8:c.738+480C=	ENSP00000356587.4:n.738+480C=
ENST00000367616.4:c.535-2016C=	ENSP00000356588.4:n.535-2016C=
NM_001297575.1:c.535-2016C=	NP_001284504.1:n.535-2016C=
NM_014625.3:c.738+480C= , LRG_887t1:c.738+480C=	NP_055440.1:n.738+480C=
XM_005245483.2:c.561+480C=	XP_005245540.1:n.561+480C=
XM_006711529.2:c.738+480C=	XP_006711592.1:n.738+480C=
XM_005245483.3:c.561+480C=	XP_005245540.1:n.561+480C=
XM_017002298.1:c.461+3132C=	XP_016857787.1:n.461+3132C=
XM_017002299.1:c.534+3132C=	XP_016857788.1:n.534+3132C=
NM_001297575.2:c.535-2016C=	NP_001284504.1:n.535-2016C=
NM_014625.4:c.738+480C= MANE Select	NP_055440.1:n.738+480C=