Canonical Allele Identifier: CA343553546

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179544860C>T (hg19) ; chr1:g.179575725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179575725C>T , CM000663.2:g.179575725C>T	GRCh38
NC_000001.10:g.179544860C>T , CM000663.1:g.179544860C>T	GRCh37
NC_000001.9:g.177811483C>T	NCBI36
NG_007535.1:g.5225G>A , LRG_887:g.5225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.140G>A MANE Select	ENSP00000356587.4:p.Gly47Asp
ENST00000367615.8:c.140G>A	ENSP00000356587.4:p.Gly47Asp
ENST00000367616.4:c.140G>A	ENSP00000356588.4:p.Gly47Asp
NM_001297575.1:c.140G>A	NP_001284504.1:p.Gly47Asp
NM_014625.3:c.140G>A , LRG_887t1:c.140G>A	NP_055440.1:p.Gly47Asp
XM_005245483.2:c.140G>A	XP_005245540.1:p.Gly47Asp
XM_006711529.2:c.140G>A	XP_006711592.1:p.Gly47Asp
XM_005245483.3:c.140G>A	XP_005245540.1:p.Gly47Asp
XM_017002298.1:c.140G>A	XP_016857787.1:p.Gly47Asp
XM_017002299.1:c.140G>A	XP_016857788.1:p.Gly47Asp
NM_001297575.2:c.140G>A	NP_001284504.1:p.Gly47Asp
NM_014625.4:c.140G>A MANE Select	NP_055440.1:p.Gly47Asp