Canonical Allele Identifier: CA343568993

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179528873G>C (hg19) ; chr1:g.179559738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179559738G>C , CM000663.2:g.179559738G>C	GRCh38
NC_000001.10:g.179528873G>C , CM000663.1:g.179528873G>C	GRCh37
NC_000001.9:g.177795496G>C	NCBI36
NG_007535.1:g.21212C>G , LRG_887:g.21212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.475C>G MANE Select	ENSP00000356587.4:p.Leu159Val
ENST00000367615.8:c.475C>G	ENSP00000356587.4:p.Leu159Val
ENST00000367616.4:c.475C>G	ENSP00000356588.4:p.Leu159Val
NM_001297575.1:c.475C>G	NP_001284504.1:p.Leu159Val
NM_014625.3:c.475C>G , LRG_887t1:c.475C>G	NP_055440.1:p.Leu159Val
XM_005245483.2:c.298C>G	XP_005245540.1:p.Leu100Val
XM_006711529.2:c.475C>G	XP_006711592.1:p.Leu159Val
XM_005245483.3:c.298C>G	XP_005245540.1:p.Leu100Val
XM_017002298.1:c.402C>G	XP_016857787.1:p.Ala134=
XM_017002299.1:c.475C>G	XP_016857788.1:p.Leu159Val
NM_001297575.2:c.475C>G	NP_001284504.1:p.Leu159Val
NM_014625.4:c.475C>G MANE Select	NP_055440.1:p.Leu159Val