Canonical Allele Identifier: CA1210319028
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179556541G= , CM000663.2:g.179556541G= GRCh38
NC_000001.10:g.179525676G= , CM000663.1:g.179525676G= GRCh37
NC_000001.9:g.177792299G= NCBI36
NG_007535.1:g.24409C= , LRG_887:g.24409C=
NG_033075.1:g.195822G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.738+486C= MANE Select ENSP00000356587.4:n.738+486C=
ENST00000367615.8:c.738+486C= ENSP00000356587.4:n.738+486C=
ENST00000367616.4:c.535-2010C= ENSP00000356588.4:n.535-2010C=
NM_001297575.1:c.535-2010C= NP_001284504.1:n.535-2010C=
NM_014625.3:c.738+486C= , LRG_887t1:c.738+486C= NP_055440.1:n.738+486C=
XM_005245483.2:c.561+486C= XP_005245540.1:n.561+486C=
XM_006711529.2:c.738+486C= XP_006711592.1:n.738+486C=
XM_005245483.3:c.561+486C= XP_005245540.1:n.561+486C=
XM_017002298.1:c.461+3138C= XP_016857787.1:n.461+3138C=
XM_017002299.1:c.534+3138C= XP_016857788.1:n.534+3138C=
NM_001297575.2:c.535-2010C= NP_001284504.1:n.535-2010C=
NM_014625.4:c.738+486C= MANE Select NP_055440.1:n.738+486C=