Canonical Allele Identifier: CA2746821935
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575941T>G , CM000663.2:g.179575941T>G GRCh38
NC_000001.10:g.179545076T>G , CM000663.1:g.179545076T>G GRCh37
NC_000001.9:g.177811699T>G NCBI36
NG_007535.1:g.5009A>C , LRG_887:g.5009A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.-77A>C MANE Select ENSP00000356587.4:n.-77A>C
ENST00000367616.4:c.-77A>C ENSP00000356588.4:n.-77A>C
NM_001297575.1:c.-77A>C NP_001284504.1:n.-77A>C
NM_014625.3:c.-77A>C , LRG_887t1:c.-77A>C NP_055440.1:n.-77A>C
XM_005245483.2:c.-77A>C XP_005245540.1:n.-77A>C
XM_006711529.2:c.-77A>C XP_006711592.1:n.-77A>C
XM_005245483.3:c.-77A>C XP_005245540.1:n.-77A>C
XM_017002298.1:c.-77A>C XP_016857787.1:n.-77A>C
XM_017002299.1:c.-77A>C XP_016857788.1:n.-77A>C
NM_001297575.2:c.-77A>C NP_001284504.1:n.-77A>C
NM_014625.4:c.-77A>C MANE Select NP_055440.1:n.-77A>C