Canonical Allele Identifier: CA2649316541
Gene: NPHS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179564542G>A , CM000663.2:g.179564542G>A GRCh38
NC_000001.10:g.179533677G>A , CM000663.1:g.179533677G>A GRCh37
NC_000001.9:g.177800300G>A NCBI36
NG_007535.1:g.16408C>T , LRG_887:g.16408C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.378+148C>T MANE Select ENSP00000356587.4:n.378+148C>T
ENST00000367615.8:c.378+148C>T ENSP00000356587.4:n.378+148C>T
ENST00000367616.4:c.378+148C>T ENSP00000356588.4:n.378+148C>T
NM_001297575.1:c.378+148C>T NP_001284504.1:n.378+148C>T
NM_014625.3:c.378+148C>T , LRG_887t1:c.378+148C>T NP_055440.1:n.378+148C>T
XM_005245483.2:c.275-4781C>T XP_005245540.1:n.275-4781C>T
XM_006711529.2:c.378+148C>T XP_006711592.1:n.378+148C>T
XM_005245483.3:c.275-4781C>T XP_005245540.1:n.275-4781C>T
XM_017002298.1:c.378+148C>T XP_016857787.1:n.378+148C>T
XM_017002299.1:c.378+148C>T XP_016857788.1:n.378+148C>T
NM_001297575.2:c.378+148C>T NP_001284504.1:n.378+148C>T
NM_014625.4:c.378+148C>T MANE Select NP_055440.1:n.378+148C>T