Canonical Allele Identifier: CA1210322055

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564621G= , CM000663.2:g.179564621G=	GRCh38
NC_000001.10:g.179533756G= , CM000663.1:g.179533756G=	GRCh37
NC_000001.9:g.177800379G=	NCBI36
NG_007535.1:g.16329C= , LRG_887:g.16329C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.378+69C= MANE Select	ENSP00000356587.4:n.378+69C=
ENST00000367615.8:c.378+69C=	ENSP00000356587.4:n.378+69C=
ENST00000367616.4:c.378+69C=	ENSP00000356588.4:n.378+69C=
NM_001297575.1:c.378+69C=	NP_001284504.1:n.378+69C=
NM_014625.3:c.378+69C= , LRG_887t1:c.378+69C=	NP_055440.1:n.378+69C=
XM_005245483.2:c.275-4860C=	XP_005245540.1:n.275-4860C=
XM_006711529.2:c.378+69C=	XP_006711592.1:n.378+69C=
XM_005245483.3:c.275-4860C=	XP_005245540.1:n.275-4860C=
XM_017002298.1:c.378+69C=	XP_016857787.1:n.378+69C=
XM_017002299.1:c.378+69C=	XP_016857788.1:n.378+69C=
NM_001297575.2:c.378+69C=	NP_001284504.1:n.378+69C=
NM_014625.4:c.378+69C= MANE Select	NP_055440.1:n.378+69C=