Canonical Allele Identifier: CA343553199
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2234689
ClinVar RCV Id: RCV002731692
dbSNP Id: rs1265632102

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575681C>T , CM000663.2:g.179575681C>T GRCh38
NC_000001.10:g.179544816C>T , CM000663.1:g.179544816C>T GRCh37
NC_000001.9:g.177811439C>T NCBI36
NG_007535.1:g.5269G>A , LRG_887:g.5269G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.184G>A MANE Select ENSP00000356587.4:p.Ala62Thr
ENST00000367615.8:c.184G>A ENSP00000356587.4:p.Ala62Thr
ENST00000367616.4:c.184G>A ENSP00000356588.4:p.Ala62Thr
NM_001297575.1:c.184G>A NP_001284504.1:p.Ala62Thr
NM_014625.3:c.184G>A , LRG_887t1:c.184G>A NP_055440.1:p.Ala62Thr
XM_005245483.2:c.184G>A XP_005245540.1:p.Ala62Thr
XM_006711529.2:c.184G>A XP_006711592.1:p.Ala62Thr
XM_005245483.3:c.184G>A XP_005245540.1:p.Ala62Thr
XM_017002298.1:c.184G>A XP_016857787.1:p.Ala62Thr
XM_017002299.1:c.184G>A XP_016857788.1:p.Ala62Thr
NM_001297575.2:c.184G>A NP_001284504.1:p.Ala62Thr
NM_014625.4:c.184G>A MANE Select NP_055440.1:p.Ala62Thr