Canonical Allele Identifier: CA1210321983
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179564429T= , CM000663.2:g.179564429T= GRCh38
NC_000001.10:g.179533564T= , CM000663.1:g.179533564T= GRCh37
NC_000001.9:g.177800187T= NCBI36
NG_007535.1:g.16521A= , LRG_887:g.16521A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.378+261A= MANE Select ENSP00000356587.4:n.378+261A=
ENST00000367615.8:c.378+261A= ENSP00000356587.4:n.378+261A=
ENST00000367616.4:c.378+261A= ENSP00000356588.4:n.378+261A=
NM_001297575.1:c.378+261A= NP_001284504.1:n.378+261A=
NM_014625.3:c.378+261A= , LRG_887t1:c.378+261A= NP_055440.1:n.378+261A=
XM_005245483.2:c.275-4668A= XP_005245540.1:n.275-4668A=
XM_006711529.2:c.378+261A= XP_006711592.1:n.378+261A=
XM_005245483.3:c.275-4668A= XP_005245540.1:n.275-4668A=
XM_017002298.1:c.378+261A= XP_016857787.1:n.378+261A=
XM_017002299.1:c.378+261A= XP_016857788.1:n.378+261A=
NM_001297575.2:c.378+261A= NP_001284504.1:n.378+261A=
NM_014625.4:c.378+261A= MANE Select NP_055440.1:n.378+261A=