Canonical Allele Identifier: CA1148731003
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179564752C= , CM000663.2:g.179564752C= GRCh38
NC_000001.10:g.179533887C= , CM000663.1:g.179533887C= GRCh37
NC_000001.9:g.177800510C= NCBI36
NG_007535.1:g.16198G= , LRG_887:g.16198G=

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.9:c.316G= MANE Select ENSP00000356587.4:p.Val106=
ENST00000367615.8:c.316G= ENSP00000356587.4:p.Val106=
ENST00000367616.4:c.316G= ENSP00000356588.4:p.Val106=
NM_001297575.1:c.316G= NP_001284504.1:p.Val106=
NM_014625.3:c.316G= , LRG_887t1:c.316G= NP_055440.1:p.Val106=
XM_005245483.2:c.275-4991G= XP_005245540.1:n.275-4991G=
XM_006711529.2:c.316G= XP_006711592.1:p.Val106=
XM_005245483.3:c.275-4991G= XP_005245540.1:n.275-4991G=
XM_017002298.1:c.316G= XP_016857787.1:p.Val106=
XM_017002299.1:c.316G= XP_016857788.1:p.Val106=
NM_001297575.2:c.316G= NP_001284504.1:p.Val106=
NM_014625.4:c.316G= MANE Select NP_055440.1:p.Val106=