Canonical Allele Identifier: CA1210320263
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179559652G= , CM000663.2:g.179559652G= GRCh38
NC_000001.10:g.179528787G= , CM000663.1:g.179528787G= GRCh37
NC_000001.9:g.177795410G= NCBI36
NG_007535.1:g.21298C= , LRG_887:g.21298C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.534+27C= MANE Select ENSP00000356587.4:n.534+27C=
ENST00000367615.8:c.534+27C= ENSP00000356587.4:n.534+27C=
ENST00000367616.4:c.534+27C= ENSP00000356588.4:n.534+27C=
NM_001297575.1:c.534+27C= NP_001284504.1:n.534+27C=
NM_014625.3:c.534+27C= , LRG_887t1:c.534+27C= NP_055440.1:n.534+27C=
XM_005245483.2:c.357+27C= XP_005245540.1:n.357+27C=
XM_006711529.2:c.534+27C= XP_006711592.1:n.534+27C=
XM_005245483.3:c.357+27C= XP_005245540.1:n.357+27C=
XM_017002298.1:c.461+27C= XP_016857787.1:n.461+27C=
XM_017002299.1:c.534+27C= XP_016857788.1:n.534+27C=
NM_001297575.2:c.534+27C= NP_001284504.1:n.534+27C=
NM_014625.4:c.534+27C= MANE Select NP_055440.1:n.534+27C=