Canonical Allele Identifier: CA1210322109

Gene: NPHS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179564758G= , CM000663.2:g.179564758G=	GRCh38
NC_000001.10:g.179533893G= , CM000663.1:g.179533893G=	GRCh37
NC_000001.9:g.177800516G=	NCBI36
NG_007535.1:g.16192C= , LRG_887:g.16192C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.310C= MANE Select	ENSP00000356587.4:p.Leu104=
ENST00000367615.8:c.310C=	ENSP00000356587.4:p.Leu104=
ENST00000367616.4:c.310C=	ENSP00000356588.4:p.Leu104=
NM_001297575.1:c.310C=	NP_001284504.1:p.Leu104=
NM_014625.3:c.310C= , LRG_887t1:c.310C=	NP_055440.1:p.Leu104=
XM_005245483.2:c.275-4997C=	XP_005245540.1:n.275-4997C=
XM_006711529.2:c.310C=	XP_006711592.1:p.Leu104=
XM_005245483.3:c.275-4997C=	XP_005245540.1:n.275-4997C=
XM_017002298.1:c.310C=	XP_016857787.1:p.Leu104=
XM_017002299.1:c.310C=	XP_016857788.1:p.Leu104=
NM_001297575.2:c.310C=	NP_001284504.1:p.Leu104=
NM_014625.4:c.310C= MANE Select	NP_055440.1:p.Leu104=