Canonical Allele Identifier: CA1210326616
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575569G= , CM000663.2:g.179575569G= GRCh38
NC_000001.10:g.179544704G= , CM000663.1:g.179544704G= GRCh37
NC_000001.9:g.177811327G= NCBI36
NG_007535.1:g.5381C= , LRG_887:g.5381C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.274+22C= MANE Select ENSP00000356587.4:n.274+22C=
ENST00000367615.8:c.274+22C= ENSP00000356587.4:n.274+22C=
ENST00000367616.4:c.274+22C= ENSP00000356588.4:n.274+22C=
NM_001297575.1:c.274+22C= NP_001284504.1:n.274+22C=
NM_014625.3:c.274+22C= , LRG_887t1:c.274+22C= NP_055440.1:n.274+22C=
XM_005245483.2:c.274+22C= XP_005245540.1:n.274+22C=
XM_006711529.2:c.274+22C= XP_006711592.1:n.274+22C=
XM_005245483.3:c.274+22C= XP_005245540.1:n.274+22C=
XM_017002298.1:c.274+22C= XP_016857787.1:n.274+22C=
XM_017002299.1:c.274+22C= XP_016857788.1:n.274+22C=
NM_001297575.2:c.274+22C= NP_001284504.1:n.274+22C=
NM_014625.4:c.274+22C= MANE Select NP_055440.1:n.274+22C=