Canonical Allele Identifier: CA1267306

Gene: NPHS2

Linked Data

• ClinVar Variation Id: 1303258
• ClinVar RCV Id: RCV001757813
• dbSNP Id: rs749680357
• ExAC: 1:179544833 T / C
• gnomAD v2: 1-179544833-T-C
• MyVariant Identifiers: chr1:g.179544833T>C (hg19) ; chr1:g.179575698T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575698T>C , CM000663.2:g.179575698T>C	GRCh38
NC_000001.10:g.179544833T>C , CM000663.1:g.179544833T>C	GRCh37
NC_000001.9:g.177811456T>C	NCBI36
NG_007535.1:g.5252A>G , LRG_887:g.5252A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.167A>G MANE Select	ENSP00000356587.4:p.Glu56Gly
ENST00000367615.8:c.167A>G	ENSP00000356587.4:p.Glu56Gly
ENST00000367616.4:c.167A>G	ENSP00000356588.4:p.Glu56Gly
NM_001297575.1:c.167A>G	NP_001284504.1:p.Glu56Gly
NM_014625.3:c.167A>G , LRG_887t1:c.167A>G	NP_055440.1:p.Glu56Gly
XM_005245483.2:c.167A>G	XP_005245540.1:p.Glu56Gly
XM_006711529.2:c.167A>G	XP_006711592.1:p.Glu56Gly
XM_005245483.3:c.167A>G	XP_005245540.1:p.Glu56Gly
XM_017002298.1:c.167A>G	XP_016857787.1:p.Glu56Gly
XM_017002299.1:c.167A>G	XP_016857788.1:p.Glu56Gly
NM_001297575.2:c.167A>G	NP_001284504.1:p.Glu56Gly
NM_014625.4:c.167A>G MANE Select	NP_055440.1:p.Glu56Gly