Canonical Allele Identifier: CA10586716
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 260428
dbSNP Id: rs886038606

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179559757A>G , CM000663.2:g.179559757A>G GRCh38
NC_000001.10:g.179528892A>G , CM000663.1:g.179528892A>G GRCh37
NC_000001.9:g.177795515A>G NCBI36
NG_007535.1:g.21193T>C , LRG_887:g.21193T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.456T>C MANE Select ENSP00000356587.4:p.Leu152=
ENST00000367615.8:c.456T>C ENSP00000356587.4:p.Leu152=
ENST00000367616.4:c.456T>C ENSP00000356588.4:p.Leu152=
NM_001297575.1:c.456T>C NP_001284504.1:p.Leu152=
NM_014625.3:c.456T>C , LRG_887t1:c.456T>C NP_055440.1:p.Leu152=
XM_005245483.2:c.279T>C XP_005245540.1:p.Leu93=
XM_006711529.2:c.456T>C XP_006711592.1:p.Leu152=
XM_005245483.3:c.279T>C XP_005245540.1:p.Leu93=
XM_017002298.1:c.383T>C XP_016857787.1:p.Phe128Ser
XM_017002299.1:c.456T>C XP_016857788.1:p.Leu152=
NM_001297575.2:c.456T>C NP_001284504.1:p.Leu152=
NM_014625.4:c.456T>C MANE Select NP_055440.1:p.Leu152=