Canonical Allele Identifier: CA343567378

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179526166G>A (hg19) ; chr1:g.179557031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557031G>A , CM000663.2:g.179557031G>A	GRCh38
NC_000001.10:g.179526166G>A , CM000663.1:g.179526166G>A	GRCh37
NC_000001.9:g.177792789G>A	NCBI36
NG_007535.1:g.23919C>T , LRG_887:g.23919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.734C>T MANE Select	ENSP00000356587.4:p.Ala245Val
ENST00000367615.8:c.734C>T	ENSP00000356587.4:p.Ala245Val
ENST00000367616.4:c.535-2500C>T	ENSP00000356588.4:n.535-2500C>T
NM_001297575.1:c.535-2500C>T	NP_001284504.1:n.535-2500C>T
NM_014625.3:c.734C>T , LRG_887t1:c.734C>T	NP_055440.1:p.Ala245Val
XM_005245483.2:c.557C>T	XP_005245540.1:p.Ala186Val
XM_006711529.2:c.734C>T	XP_006711592.1:p.Ala245Val
XM_005245483.3:c.557C>T	XP_005245540.1:p.Ala186Val
XM_017002298.1:c.461+2648C>T	XP_016857787.1:n.461+2648C>T
XM_017002299.1:c.534+2648C>T	XP_016857788.1:n.534+2648C>T
NM_001297575.2:c.535-2500C>T	NP_001284504.1:n.535-2500C>T
NM_014625.4:c.734C>T MANE Select	NP_055440.1:p.Ala245Val