Canonical Allele Identifier: CA1210319151
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179556768T= , CM000663.2:g.179556768T= GRCh38
NC_000001.10:g.179525903T= , CM000663.1:g.179525903T= GRCh37
NC_000001.9:g.177792526T= NCBI36
NG_007535.1:g.24182A= , LRG_887:g.24182A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.738+259A= MANE Select ENSP00000356587.4:n.738+259A=
ENST00000367615.8:c.738+259A= ENSP00000356587.4:n.738+259A=
ENST00000367616.4:c.535-2237A= ENSP00000356588.4:n.535-2237A=
NM_001297575.1:c.535-2237A= NP_001284504.1:n.535-2237A=
NM_014625.3:c.738+259A= , LRG_887t1:c.738+259A= NP_055440.1:n.738+259A=
XM_005245483.2:c.561+259A= XP_005245540.1:n.561+259A=
XM_006711529.2:c.738+259A= XP_006711592.1:n.738+259A=
XM_005245483.3:c.561+259A= XP_005245540.1:n.561+259A=
XM_017002298.1:c.461+2911A= XP_016857787.1:n.461+2911A=
XM_017002299.1:c.534+2911A= XP_016857788.1:n.534+2911A=
NM_001297575.2:c.535-2237A= NP_001284504.1:n.535-2237A=
NM_014625.4:c.738+259A= MANE Select NP_055440.1:n.738+259A=