Canonical Allele Identifier: CA1210319071

Gene: NPHS2

Linked Data

• dbSNP Id: rs1673940783

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556617T>C , CM000663.2:g.179556617T>C	GRCh38
NC_000001.10:g.179525752T>C , CM000663.1:g.179525752T>C	GRCh37
NC_000001.9:g.177792375T>C	NCBI36
NG_007535.1:g.24333A>G , LRG_887:g.24333A>G
NG_033075.1:g.195898T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+410A>G MANE Select	ENSP00000356587.4:n.738+410A>G
ENST00000367615.8:c.738+410A>G	ENSP00000356587.4:n.738+410A>G
ENST00000367616.4:c.535-2086A>G	ENSP00000356588.4:n.535-2086A>G
NM_001297575.1:c.535-2086A>G	NP_001284504.1:n.535-2086A>G
NM_014625.3:c.738+410A>G , LRG_887t1:c.738+410A>G	NP_055440.1:n.738+410A>G
XM_005245483.2:c.561+410A>G	XP_005245540.1:n.561+410A>G
XM_006711529.2:c.738+410A>G	XP_006711592.1:n.738+410A>G
XM_005245483.3:c.561+410A>G	XP_005245540.1:n.561+410A>G
XM_017002298.1:c.461+3062A>G	XP_016857787.1:n.461+3062A>G
XM_017002299.1:c.534+3062A>G	XP_016857788.1:n.534+3062A>G
NM_001297575.2:c.535-2086A>G	NP_001284504.1:n.535-2086A>G
NM_014625.4:c.738+410A>G MANE Select	NP_055440.1:n.738+410A>G