Canonical Allele Identifier: CA1267264
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 260426
dbSNP Id: rs3738423

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179564780G>A , CM000663.2:g.179564780G>A GRCh38
NC_000001.10:g.179533915G>A , CM000663.1:g.179533915G>A GRCh37
NC_000001.9:g.177800538G>A NCBI36
NG_007535.1:g.16170C>T , LRG_887:g.16170C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.288C>T MANE Select ENSP00000356587.4:p.Ser96=
ENST00000367615.8:c.288C>T ENSP00000356587.4:p.Ser96=
ENST00000367616.4:c.288C>T ENSP00000356588.4:p.Ser96=
NM_001297575.1:c.288C>T NP_001284504.1:p.Ser96=
NM_014625.3:c.288C>T , LRG_887t1:c.288C>T NP_055440.1:p.Ser96=
XM_005245483.2:c.275-5019C>T XP_005245540.1:n.275-5019C>T
XM_006711529.2:c.288C>T XP_006711592.1:p.Ser96=
XM_005245483.3:c.275-5019C>T XP_005245540.1:n.275-5019C>T
XM_017002298.1:c.288C>T XP_016857787.1:p.Ser96=
XM_017002299.1:c.288C>T XP_016857788.1:p.Ser96=
NM_001297575.2:c.288C>T NP_001284504.1:p.Ser96=
NM_014625.4:c.288C>T MANE Select NP_055440.1:p.Ser96=