Canonical Allele Identifier: CA1210320851
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561342C= , CM000663.2:g.179561342C= GRCh38
NC_000001.10:g.179530477C= , CM000663.1:g.179530477C= GRCh37
NC_000001.9:g.177797100C= NCBI36
NG_007535.1:g.19608G= , LRG_887:g.19608G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.398G= MANE Select ENSP00000356587.4:p.Arg133=
ENST00000367615.8:c.398G= ENSP00000356587.4:p.Arg133=
ENST00000367616.4:c.398G= ENSP00000356588.4:p.Arg133=
NM_001297575.1:c.398G= NP_001284504.1:p.Arg133=
NM_014625.3:c.398G= , LRG_887t1:c.398G= NP_055440.1:p.Arg133=
XM_005245483.2:c.275-1581G= XP_005245540.1:n.275-1581G=
XM_006711529.2:c.398G= XP_006711592.1:p.Arg133=
XM_005245483.3:c.275-1581G= XP_005245540.1:n.275-1581G=
XM_017002298.1:c.379-1581G= XP_016857787.1:n.379-1581G=
XM_017002299.1:c.398G= XP_016857788.1:p.Arg133=
NM_001297575.2:c.398G= NP_001284504.1:p.Arg133=
NM_014625.4:c.398G= MANE Select NP_055440.1:p.Arg133=