Canonical Allele Identifier: CA1210319278

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557185A= , CM000663.2:g.179557185A=	GRCh38
NC_000001.10:g.179526320A= , CM000663.1:g.179526320A=	GRCh37
NC_000001.9:g.177792943A=	NCBI36
NG_007535.1:g.23765T= , LRG_887:g.23765T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.580T= MANE Select	ENSP00000356587.4:p.Tyr194=
ENST00000367615.8:c.580T=	ENSP00000356587.4:p.Tyr194=
ENST00000367616.4:c.534+2494T=	ENSP00000356588.4:n.534+2494T=
NM_001297575.1:c.534+2494T=	NP_001284504.1:n.534+2494T=
NM_014625.3:c.580T= , LRG_887t1:c.580T=	NP_055440.1:p.Tyr194=
XM_005245483.2:c.403T=	XP_005245540.1:p.Tyr135=
XM_006711529.2:c.580T=	XP_006711592.1:p.Tyr194=
XM_005245483.3:c.403T=	XP_005245540.1:p.Tyr135=
XM_017002298.1:c.461+2494T=	XP_016857787.1:n.461+2494T=
XM_017002299.1:c.534+2494T=	XP_016857788.1:n.534+2494T=
NM_001297575.2:c.534+2494T=	NP_001284504.1:n.534+2494T=
NM_014625.4:c.580T= MANE Select	NP_055440.1:p.Tyr194=