Canonical Allele Identifier: CA1210319114
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179556711C= , CM000663.2:g.179556711C= GRCh38
NC_000001.10:g.179525846C= , CM000663.1:g.179525846C= GRCh37
NC_000001.9:g.177792469C= NCBI36
NG_007535.1:g.24239G= , LRG_887:g.24239G=
NG_033075.1:g.195992C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.738+316G= MANE Select ENSP00000356587.4:n.738+316G=
ENST00000367615.8:c.738+316G= ENSP00000356587.4:n.738+316G=
ENST00000367616.4:c.535-2180G= ENSP00000356588.4:n.535-2180G=
NM_001297575.1:c.535-2180G= NP_001284504.1:n.535-2180G=
NM_014625.3:c.738+316G= , LRG_887t1:c.738+316G= NP_055440.1:n.738+316G=
XM_005245483.2:c.561+316G= XP_005245540.1:n.561+316G=
XM_006711529.2:c.738+316G= XP_006711592.1:n.738+316G=
XM_005245483.3:c.561+316G= XP_005245540.1:n.561+316G=
XM_017002298.1:c.461+2968G= XP_016857787.1:n.461+2968G=
XM_017002299.1:c.534+2968G= XP_016857788.1:n.534+2968G=
NM_001297575.2:c.535-2180G= NP_001284504.1:n.535-2180G=
NM_014625.4:c.738+316G= MANE Select NP_055440.1:n.738+316G=