Canonical Allele Identifier: CA343553356
Gene: NPHS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575704G>T , CM000663.2:g.179575704G>T GRCh38
NC_000001.10:g.179544839G>T , CM000663.1:g.179544839G>T GRCh37
NC_000001.9:g.177811462G>T NCBI36
NG_007535.1:g.5246C>A , LRG_887:g.5246C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.161C>A MANE Select ENSP00000356587.4:p.Pro54Gln
ENST00000367615.8:c.161C>A ENSP00000356587.4:p.Pro54Gln
ENST00000367616.4:c.161C>A ENSP00000356588.4:p.Pro54Gln
NM_001297575.1:c.161C>A NP_001284504.1:p.Pro54Gln
NM_014625.3:c.161C>A , LRG_887t1:c.161C>A NP_055440.1:p.Pro54Gln
XM_005245483.2:c.161C>A XP_005245540.1:p.Pro54Gln
XM_006711529.2:c.161C>A XP_006711592.1:p.Pro54Gln
XM_005245483.3:c.161C>A XP_005245540.1:p.Pro54Gln
XM_017002298.1:c.161C>A XP_016857787.1:p.Pro54Gln
XM_017002299.1:c.161C>A XP_016857788.1:p.Pro54Gln
NM_001297575.2:c.161C>A NP_001284504.1:p.Pro54Gln
NM_014625.4:c.161C>A MANE Select NP_055440.1:p.Pro54Gln