Canonical Allele Identifier: CA1210320853
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561347A= , CM000663.2:g.179561347A= GRCh38
NC_000001.10:g.179530482A= , CM000663.1:g.179530482A= GRCh37
NC_000001.9:g.177797105A= NCBI36
NG_007535.1:g.19603T= , LRG_887:g.19603T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.393T= MANE Select ENSP00000356587.4:p.Tyr131=
ENST00000367615.8:c.393T= ENSP00000356587.4:p.Tyr131=
ENST00000367616.4:c.393T= ENSP00000356588.4:p.Tyr131=
NM_001297575.1:c.393T= NP_001284504.1:p.Tyr131=
NM_014625.3:c.393T= , LRG_887t1:c.393T= NP_055440.1:p.Tyr131=
XM_005245483.2:c.275-1586T= XP_005245540.1:n.275-1586T=
XM_006711529.2:c.393T= XP_006711592.1:p.Tyr131=
XM_005245483.3:c.275-1586T= XP_005245540.1:n.275-1586T=
XM_017002298.1:c.379-1586T= XP_016857787.1:n.379-1586T=
XM_017002299.1:c.393T= XP_016857788.1:p.Tyr131=
NM_001297575.2:c.393T= NP_001284504.1:p.Tyr131=
NM_014625.4:c.393T= MANE Select NP_055440.1:p.Tyr131=