Canonical Allele Identifier: CA1210319041

Gene: NPHS2

Linked Data

• dbSNP Id: rs1673937423

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556556T>C , CM000663.2:g.179556556T>C	GRCh38
NC_000001.10:g.179525691T>C , CM000663.1:g.179525691T>C	GRCh37
NC_000001.9:g.177792314T>C	NCBI36
NG_007535.1:g.24394A>G , LRG_887:g.24394A>G
NG_033075.1:g.195837T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+471A>G MANE Select	ENSP00000356587.4:n.738+471A>G
ENST00000367615.8:c.738+471A>G	ENSP00000356587.4:n.738+471A>G
ENST00000367616.4:c.535-2025A>G	ENSP00000356588.4:n.535-2025A>G
NM_001297575.1:c.535-2025A>G	NP_001284504.1:n.535-2025A>G
NM_014625.3:c.738+471A>G , LRG_887t1:c.738+471A>G	NP_055440.1:n.738+471A>G
XM_005245483.2:c.561+471A>G	XP_005245540.1:n.561+471A>G
XM_006711529.2:c.738+471A>G	XP_006711592.1:n.738+471A>G
XM_005245483.3:c.561+471A>G	XP_005245540.1:n.561+471A>G
XM_017002298.1:c.461+3123A>G	XP_016857787.1:n.461+3123A>G
XM_017002299.1:c.534+3123A>G	XP_016857788.1:n.534+3123A>G
NM_001297575.2:c.535-2025A>G	NP_001284504.1:n.535-2025A>G
NM_014625.4:c.738+471A>G MANE Select	NP_055440.1:n.738+471A>G