Canonical Allele Identifier: CA1009656427
Gene: NPHS2 HGNC NCBI

Linked Data

dbSNP Id: rs1674755671

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575940C>T , CM000663.2:g.179575940C>T GRCh38
NC_000001.10:g.179545075C>T , CM000663.1:g.179545075C>T GRCh37
NC_000001.9:g.177811698C>T NCBI36
NG_007535.1:g.5010G>A , LRG_887:g.5010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.-76G>A MANE Select ENSP00000356587.4:n.-76G>A
ENST00000367616.4:c.-76G>A ENSP00000356588.4:n.-76G>A
NM_001297575.1:c.-76G>A NP_001284504.1:n.-76G>A
NM_014625.3:c.-76G>A , LRG_887t1:c.-76G>A NP_055440.1:n.-76G>A
XM_005245483.2:c.-76G>A XP_005245540.1:n.-76G>A
XM_006711529.2:c.-76G>A XP_006711592.1:n.-76G>A
XM_005245483.3:c.-76G>A XP_005245540.1:n.-76G>A
XM_017002298.1:c.-76G>A XP_016857787.1:n.-76G>A
XM_017002299.1:c.-76G>A XP_016857788.1:n.-76G>A
NM_001297575.2:c.-76G>A NP_001284504.1:n.-76G>A
NM_014625.4:c.-76G>A MANE Select NP_055440.1:n.-76G>A