Canonical Allele Identifier: CA343568159

Gene: NPHS2

Linked Data

• dbSNP Id: rs1295388587
• gnomAD v2: 1-179526325-A-G
• gnomAD v4: 1-179557190-A-G
• MyVariant Identifiers: chr1:g.179526325A>G (hg19) ; chr1:g.179557190A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557190A>G , CM000663.2:g.179557190A>G	GRCh38
NC_000001.10:g.179526325A>G , CM000663.1:g.179526325A>G	GRCh37
NC_000001.9:g.177792948A>G	NCBI36
NG_007535.1:g.23760T>C , LRG_887:g.23760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.575T>C MANE Select	ENSP00000356587.4:p.Ile192Thr
ENST00000367615.8:c.575T>C	ENSP00000356587.4:p.Ile192Thr
ENST00000367616.4:c.534+2489T>C	ENSP00000356588.4:n.534+2489T>C
NM_001297575.1:c.534+2489T>C	NP_001284504.1:n.534+2489T>C
NM_014625.3:c.575T>C , LRG_887t1:c.575T>C	NP_055440.1:p.Ile192Thr
XM_005245483.2:c.398T>C	XP_005245540.1:p.Ile133Thr
XM_006711529.2:c.575T>C	XP_006711592.1:p.Ile192Thr
XM_005245483.3:c.398T>C	XP_005245540.1:p.Ile133Thr
XM_017002298.1:c.461+2489T>C	XP_016857787.1:n.461+2489T>C
XM_017002299.1:c.534+2489T>C	XP_016857788.1:n.534+2489T>C
NM_001297575.2:c.534+2489T>C	NP_001284504.1:n.534+2489T>C
NM_014625.4:c.575T>C MANE Select	NP_055440.1:p.Ile192Thr