Canonical Allele Identifier: CA343567654

Gene: NPHS2

Linked Data

• dbSNP Id: rs1673959295
• MyVariant Identifiers: chr1:g.179526223A>G (hg19) ; chr1:g.179557088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557088A>G , CM000663.2:g.179557088A>G	GRCh38
NC_000001.10:g.179526223A>G , CM000663.1:g.179526223A>G	GRCh37
NC_000001.9:g.177792846A>G	NCBI36
NG_007535.1:g.23862T>C , LRG_887:g.23862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.677T>C MANE Select	ENSP00000356587.4:p.Leu226Pro
ENST00000367615.8:c.677T>C	ENSP00000356587.4:p.Leu226Pro
ENST00000367616.4:c.535-2557T>C	ENSP00000356588.4:n.535-2557T>C
NM_001297575.1:c.535-2557T>C	NP_001284504.1:n.535-2557T>C
NM_014625.3:c.677T>C , LRG_887t1:c.677T>C	NP_055440.1:p.Leu226Pro
XM_005245483.2:c.500T>C	XP_005245540.1:p.Leu167Pro
XM_006711529.2:c.677T>C	XP_006711592.1:p.Leu226Pro
XM_005245483.3:c.500T>C	XP_005245540.1:p.Leu167Pro
XM_017002298.1:c.461+2591T>C	XP_016857787.1:n.461+2591T>C
XM_017002299.1:c.534+2591T>C	XP_016857788.1:n.534+2591T>C
NM_001297575.2:c.535-2557T>C	NP_001284504.1:n.535-2557T>C
NM_014625.4:c.677T>C MANE Select	NP_055440.1:p.Leu226Pro