Canonical Allele Identifier: CA343567369

Gene: NPHS2

Linked Data

• MyVariant Identifiers: chr1:g.179526163T>G (hg19) ; chr1:g.179557028T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179557028T>G , CM000663.2:g.179557028T>G	GRCh38
NC_000001.10:g.179526163T>G , CM000663.1:g.179526163T>G	GRCh37
NC_000001.9:g.177792786T>G	NCBI36
NG_007535.1:g.23922A>C , LRG_887:g.23922A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.737A>C MANE Select	ENSP00000356587.4:p.Lys246Thr
ENST00000367615.8:c.737A>C	ENSP00000356587.4:p.Lys246Thr
ENST00000367616.4:c.535-2497A>C	ENSP00000356588.4:n.535-2497A>C
NM_001297575.1:c.535-2497A>C	NP_001284504.1:n.535-2497A>C
NM_014625.3:c.737A>C , LRG_887t1:c.737A>C	NP_055440.1:p.Lys246Thr
XM_005245483.2:c.560A>C	XP_005245540.1:p.Lys187Thr
XM_006711529.2:c.737A>C	XP_006711592.1:p.Lys246Thr
XM_005245483.3:c.560A>C	XP_005245540.1:p.Lys187Thr
XM_017002298.1:c.461+2651A>C	XP_016857787.1:n.461+2651A>C
XM_017002299.1:c.534+2651A>C	XP_016857788.1:n.534+2651A>C
NM_001297575.2:c.535-2497A>C	NP_001284504.1:n.535-2497A>C
NM_014625.4:c.737A>C MANE Select	NP_055440.1:p.Lys246Thr