Canonical Allele Identifier: CA1210319229

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557032C= , CM000663.2:g.179557032C=	GRCh38
NC_000001.10:g.179526167C= , CM000663.1:g.179526167C=	GRCh37
NC_000001.9:g.177792790C=	NCBI36
NG_007535.1:g.23918G= , LRG_887:g.23918G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.733G= MANE Select	ENSP00000356587.4:p.Ala245=
ENST00000367615.8:c.733G=	ENSP00000356587.4:p.Ala245=
ENST00000367616.4:c.535-2501G=	ENSP00000356588.4:n.535-2501G=
NM_001297575.1:c.535-2501G=	NP_001284504.1:n.535-2501G=
NM_014625.3:c.733G= , LRG_887t1:c.733G=	NP_055440.1:p.Ala245=
XM_005245483.2:c.556G=	XP_005245540.1:p.Ala186=
XM_006711529.2:c.733G=	XP_006711592.1:p.Ala245=
XM_005245483.3:c.556G=	XP_005245540.1:p.Ala186=
XM_017002298.1:c.461+2647G=	XP_016857787.1:n.461+2647G=
XM_017002299.1:c.534+2647G=	XP_016857788.1:n.534+2647G=
NM_001297575.2:c.535-2501G=	NP_001284504.1:n.535-2501G=
NM_014625.4:c.733G= MANE Select	NP_055440.1:p.Ala245=