Canonical Allele Identifier: CA1144521616
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561428A= , CM000663.2:g.179561428A= GRCh38
NC_000001.10:g.179530563A= , CM000663.1:g.179530563A= GRCh37
NC_000001.9:g.177797186A= NCBI36
NG_007535.1:g.19522T= , LRG_887:g.19522T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.379-67T= MANE Select ENSP00000356587.4:n.379-67T=
ENST00000367615.8:c.379-67T= ENSP00000356587.4:n.379-67T=
ENST00000367616.4:c.379-67T= ENSP00000356588.4:n.379-67T=
NM_001297575.1:c.379-67T= NP_001284504.1:n.379-67T=
NM_014625.3:c.379-67T= , LRG_887t1:c.379-67T= NP_055440.1:n.379-67T=
XM_005245483.2:c.275-1667T= XP_005245540.1:n.275-1667T=
XM_006711529.2:c.379-67T= XP_006711592.1:n.379-67T=
XM_005245483.3:c.275-1667T= XP_005245540.1:n.275-1667T=
XM_017002298.1:c.379-1667T= XP_016857787.1:n.379-1667T=
XM_017002299.1:c.379-67T= XP_016857788.1:n.379-67T=
NM_001297575.2:c.379-67T= NP_001284504.1:n.379-67T=
NM_014625.4:c.379-67T= MANE Select NP_055440.1:n.379-67T=