Canonical Allele Identifier: CA1210319225
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179557020T= , CM000663.2:g.179557020T= GRCh38
NC_000001.10:g.179526155T= , CM000663.1:g.179526155T= GRCh37
NC_000001.9:g.177792778T= NCBI36
NG_007535.1:g.23930A= , LRG_887:g.23930A=

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.9:c.738+7A= MANE Select ENSP00000356587.4:n.738+7A=
ENST00000367615.8:c.738+7A= ENSP00000356587.4:n.738+7A=
ENST00000367616.4:c.535-2489A= ENSP00000356588.4:n.535-2489A=
NM_001297575.1:c.535-2489A= NP_001284504.1:n.535-2489A=
NM_014625.3:c.738+7A= , LRG_887t1:c.738+7A= NP_055440.1:n.738+7A=
XM_005245483.2:c.561+7A= XP_005245540.1:n.561+7A=
XM_006711529.2:c.738+7A= XP_006711592.1:n.738+7A=
XM_005245483.3:c.561+7A= XP_005245540.1:n.561+7A=
XM_017002298.1:c.461+2659A= XP_016857787.1:n.461+2659A=
XM_017002299.1:c.534+2659A= XP_016857788.1:n.534+2659A=
NM_001297575.2:c.535-2489A= NP_001284504.1:n.535-2489A=
NM_014625.4:c.738+7A= MANE Select NP_055440.1:n.738+7A=