Canonical Allele Identifier: CA1009659248

Gene: NPHS2

Linked Data

• dbSNP Id: rs1673939636
• gnomAD v3: 1-179556595-G-GA
• gnomAD v4: 1-179556595-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179556597dup , CM000663.2:g.179556597dup	GRCh38
NC_000001.10:g.179525732dup , CM000663.1:g.179525732dup	GRCh37
NC_000001.9:g.177792355dup	NCBI36
NG_007535.1:g.24354dup , LRG_887:g.24354dup
NG_033075.1:g.195878dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367615.9:c.738+431dup MANE Select	ENSP00000356587.4:n.738+431dup
ENST00000367615.8:c.738+431dup	ENSP00000356587.4:n.738+431dup
ENST00000367616.4:c.535-2065dup	ENSP00000356588.4:n.535-2065dup
NM_001297575.1:c.535-2065dup	NP_001284504.1:n.535-2065dup
NM_014625.3:c.738+431dup , LRG_887t1:c.738+431dup	NP_055440.1:n.738+431dup
XM_005245483.2:c.561+431dup	XP_005245540.1:n.561+431dup
XM_006711529.2:c.738+431dup	XP_006711592.1:n.738+431dup
XM_005245483.3:c.561+431dup	XP_005245540.1:n.561+431dup
XM_017002298.1:c.461+3083dup	XP_016857787.1:n.461+3083dup
XM_017002299.1:c.534+3083dup	XP_016857788.1:n.534+3083dup
NM_001297575.2:c.535-2065dup	NP_001284504.1:n.535-2065dup
NM_014625.4:c.738+431dup MANE Select	NP_055440.1:n.738+431dup