Canonical Allele Identifier: CA343568168

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179526326T>A (hg19) ; chr1:g.179557191T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557191T>A , CM000663.2:g.179557191T>A	GRCh38
NC_000001.10:g.179526326T>A , CM000663.1:g.179526326T>A	GRCh37
NC_000001.9:g.177792949T>A	NCBI36
NG_007535.1:g.23759A>T , LRG_887:g.23759A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.574A>T MANE Select	ENSP00000356587.4:p.Ile192Phe
ENST00000367615.8:c.574A>T	ENSP00000356587.4:p.Ile192Phe
ENST00000367616.4:c.534+2488A>T	ENSP00000356588.4:n.534+2488A>T
NM_001297575.1:c.534+2488A>T	NP_001284504.1:n.534+2488A>T
NM_014625.3:c.574A>T , LRG_887t1:c.574A>T	NP_055440.1:p.Ile192Phe
XM_005245483.2:c.397A>T	XP_005245540.1:p.Ile133Phe
XM_006711529.2:c.574A>T	XP_006711592.1:p.Ile192Phe
XM_005245483.3:c.397A>T	XP_005245540.1:p.Ile133Phe
XM_017002298.1:c.461+2488A>T	XP_016857787.1:n.461+2488A>T
XM_017002299.1:c.534+2488A>T	XP_016857788.1:n.534+2488A>T
NM_001297575.2:c.534+2488A>T	NP_001284504.1:n.534+2488A>T
NM_014625.4:c.574A>T MANE Select	NP_055440.1:p.Ile192Phe