Canonical Allele Identifier: CA1210320810
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179561265A= , CM000663.2:g.179561265A= GRCh38
NC_000001.10:g.179530400A= , CM000663.1:g.179530400A= GRCh37
NC_000001.9:g.177797023A= NCBI36
NG_007535.1:g.19685T= , LRG_887:g.19685T=

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.9:c.451+24T= MANE Select ENSP00000356587.4:n.451+24T=
ENST00000367615.8:c.451+24T= ENSP00000356587.4:n.451+24T=
ENST00000367616.4:c.451+24T= ENSP00000356588.4:n.451+24T=
NM_001297575.1:c.451+24T= NP_001284504.1:n.451+24T=
NM_014625.3:c.451+24T= , LRG_887t1:c.451+24T= NP_055440.1:n.451+24T=
XM_005245483.2:c.275-1504T= XP_005245540.1:n.275-1504T=
XM_006711529.2:c.451+24T= XP_006711592.1:n.451+24T=
XM_005245483.3:c.275-1504T= XP_005245540.1:n.275-1504T=
XM_017002298.1:c.379-1504T= XP_016857787.1:n.379-1504T=
XM_017002299.1:c.451+24T= XP_016857788.1:n.451+24T=
NM_001297575.2:c.451+24T= NP_001284504.1:n.451+24T=
NM_014625.4:c.451+24T= MANE Select NP_055440.1:n.451+24T=