Canonical Allele Identifier: CA1267178

Gene: NPHS2

Linked Data

• dbSNP Id: rs12568913
• ExAC: 1:179526314 G / C
• gnomAD v2: 1-179526314-G-C
• gnomAD v4: 1-179557179-G-C
• MyVariant Identifiers: chr1:g.179526314G>C (hg19) ; chr1:g.179557179G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557179G>C , CM000663.2:g.179557179G>C	GRCh38
NC_000001.10:g.179526314G>C , CM000663.1:g.179526314G>C	GRCh37
NC_000001.9:g.177792937G>C	NCBI36
NG_007535.1:g.23771C>G , LRG_887:g.23771C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.586C>G MANE Select	ENSP00000356587.4:p.Arg196Gly
ENST00000367615.8:c.586C>G	ENSP00000356587.4:p.Arg196Gly
ENST00000367616.4:c.534+2500C>G	ENSP00000356588.4:n.534+2500C>G
NM_001297575.1:c.534+2500C>G	NP_001284504.1:n.534+2500C>G
NM_014625.3:c.586C>G , LRG_887t1:c.586C>G	NP_055440.1:p.Arg196Gly
XM_005245483.2:c.409C>G	XP_005245540.1:p.Arg137Gly
XM_006711529.2:c.586C>G	XP_006711592.1:p.Arg196Gly
XM_005245483.3:c.409C>G	XP_005245540.1:p.Arg137Gly
XM_017002298.1:c.461+2500C>G	XP_016857787.1:n.461+2500C>G
XM_017002299.1:c.534+2500C>G	XP_016857788.1:n.534+2500C>G
NM_001297575.2:c.534+2500C>G	NP_001284504.1:n.534+2500C>G
NM_014625.4:c.586C>G MANE Select	NP_055440.1:p.Arg196Gly