Canonical Allele Identifier: CA343568795

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179528833A>T (hg19) ; chr1:g.179559698A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559698A>T , CM000663.2:g.179559698A>T	GRCh38
NC_000001.10:g.179528833A>T , CM000663.1:g.179528833A>T	GRCh37
NC_000001.9:g.177795456A>T	NCBI36
NG_007535.1:g.21252T>A , LRG_887:g.21252T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.515T>A MANE Select	ENSP00000356587.4:p.Leu172Gln
ENST00000367615.8:c.515T>A	ENSP00000356587.4:p.Leu172Gln
ENST00000367616.4:c.515T>A	ENSP00000356588.4:p.Leu172Gln
NM_001297575.1:c.515T>A	NP_001284504.1:p.Leu172Gln
NM_014625.3:c.515T>A , LRG_887t1:c.515T>A	NP_055440.1:p.Leu172Gln
XM_005245483.2:c.338T>A	XP_005245540.1:p.Leu113Gln
XM_006711529.2:c.515T>A	XP_006711592.1:p.Leu172Gln
XM_005245483.3:c.338T>A	XP_005245540.1:p.Leu113Gln
XM_017002298.1:c.442T>A	XP_016857787.1:p.Trp148Arg
XM_017002299.1:c.515T>A	XP_016857788.1:p.Leu172Gln
NM_001297575.2:c.515T>A	NP_001284504.1:p.Leu172Gln
NM_014625.4:c.515T>A MANE Select	NP_055440.1:p.Leu172Gln