Canonical Allele Identifier: CA1210319124
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179556722A= , CM000663.2:g.179556722A= GRCh38
NC_000001.10:g.179525857A= , CM000663.1:g.179525857A= GRCh37
NC_000001.9:g.177792480A= NCBI36
NG_007535.1:g.24228T= , LRG_887:g.24228T=
NG_033075.1:g.196003A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.738+305T= MANE Select ENSP00000356587.4:n.738+305T=
ENST00000367615.8:c.738+305T= ENSP00000356587.4:n.738+305T=
ENST00000367616.4:c.535-2191T= ENSP00000356588.4:n.535-2191T=
NM_001297575.1:c.535-2191T= NP_001284504.1:n.535-2191T=
NM_014625.3:c.738+305T= , LRG_887t1:c.738+305T= NP_055440.1:n.738+305T=
XM_005245483.2:c.561+305T= XP_005245540.1:n.561+305T=
XM_006711529.2:c.738+305T= XP_006711592.1:n.738+305T=
XM_005245483.3:c.561+305T= XP_005245540.1:n.561+305T=
XM_017002298.1:c.461+2957T= XP_016857787.1:n.461+2957T=
XM_017002299.1:c.534+2957T= XP_016857788.1:n.534+2957T=
NM_001297575.2:c.535-2191T= NP_001284504.1:n.535-2191T=
NM_014625.4:c.738+305T= MANE Select NP_055440.1:n.738+305T=