Canonical Allele Identifier: CA1210326699
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575731G= , CM000663.2:g.179575731G= GRCh38
NC_000001.10:g.179544866G= , CM000663.1:g.179544866G= GRCh37
NC_000001.9:g.177811489G= NCBI36
NG_007535.1:g.5219C= , LRG_887:g.5219C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.134C= MANE Select ENSP00000356587.4:p.Pro45=
ENST00000367615.8:c.134C= ENSP00000356587.4:p.Pro45=
ENST00000367616.4:c.134C= ENSP00000356588.4:p.Pro45=
NM_001297575.1:c.134C= NP_001284504.1:p.Pro45=
NM_014625.3:c.134C= , LRG_887t1:c.134C= NP_055440.1:p.Pro45=
XM_005245483.2:c.134C= XP_005245540.1:p.Pro45=
XM_006711529.2:c.134C= XP_006711592.1:p.Pro45=
XM_005245483.3:c.134C= XP_005245540.1:p.Pro45=
XM_017002298.1:c.134C= XP_016857787.1:p.Pro45=
XM_017002299.1:c.134C= XP_016857788.1:p.Pro45=
NM_001297575.2:c.134C= NP_001284504.1:p.Pro45=
NM_014625.4:c.134C= MANE Select NP_055440.1:p.Pro45=