Canonical Allele Identifier: CA117451
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 5365
dbSNP Id: rs74315344

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575806G>A , CM000663.2:g.179575806G>A GRCh38
NC_000001.10:g.179544941G>A , CM000663.1:g.179544941G>A GRCh37
NC_000001.9:g.177811564G>A NCBI36
NG_007535.1:g.5144C>T , LRG_887:g.5144C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.59C>T MANE Select ENSP00000356587.4:p.Pro20Leu
ENST00000367615.8:c.59C>T ENSP00000356587.4:p.Pro20Leu
ENST00000367616.4:c.59C>T ENSP00000356588.4:p.Pro20Leu
NM_001297575.1:c.59C>T NP_001284504.1:p.Pro20Leu
NM_014625.3:c.59C>T , LRG_887t1:c.59C>T NP_055440.1:p.Pro20Leu
XM_005245483.2:c.59C>T XP_005245540.1:p.Pro20Leu
XM_006711529.2:c.59C>T XP_006711592.1:p.Pro20Leu
XM_005245483.3:c.59C>T XP_005245540.1:p.Pro20Leu
XM_017002298.1:c.59C>T XP_016857787.1:p.Pro20Leu
XM_017002299.1:c.59C>T XP_016857788.1:p.Pro20Leu
NM_001297575.2:c.59C>T NP_001284504.1:p.Pro20Leu
NM_014625.4:c.59C>T MANE Select NP_055440.1:p.Pro20Leu