Canonical Allele Identifier: CA1210320283
Community Standard Title: NM_014625.4(NPHS2):c.502C= (p.Arg168=)
Gene: NPHS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179559711G= , CM000663.2:g.179559711G= GRCh38
NC_000001.10:g.179528846G= , CM000663.1:g.179528846G= GRCh37
NC_000001.9:g.177795469G= NCBI36
NG_007535.1:g.21239C= , LRG_887:g.21239C=

Transcript Alleles

HGVS Amino-acid Change
NM_014625.4:c.502C= MANE Select NP_055440.1:p.Arg168=
ENST00000367615.9:c.502C= MANE Select ENSP00000356587.4:p.Arg168=
NM_001297575.1:c.502C= NP_001284504.1:p.Arg168=
NM_001297575.2:c.502C= NP_001284504.1:p.Arg168=
NM_014625.3:c.502C= , LRG_887t1:c.502C= NP_055440.1:p.Arg168=
ENST00000367615.8:c.502C= ENSP00000356587.4:p.Arg168=
ENST00000367616.4:c.502C= ENSP00000356588.4:p.Arg168=
XM_005245483.2:c.325C= XP_005245540.1:p.Arg109=
XM_005245483.3:c.325C= XP_005245540.1:p.Arg109=
XM_006711529.2:c.502C= XP_006711592.1:p.Arg168=
XM_017002298.1:c.429C= XP_016857787.1:p.Phe143=
XM_017002299.1:c.502C= XP_016857788.1:p.Arg168=