Canonical Allele Identifier: CA2649316333

Gene: NPHS2

Linked Data

• gnomAD v4: 1-179561248-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.179561248T>G , CM000663.2:g.179561248T>G	GRCh38
NC_000001.10:g.179530383T>G , CM000663.1:g.179530383T>G	GRCh37
NC_000001.9:g.177797006T>G	NCBI36
NG_007535.1:g.19702A>C , LRG_887:g.19702A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367615.9:c.451+41A>C MANE Select	ENSP00000356587.4:n.451+41A>C
ENST00000367615.8:c.451+41A>C	ENSP00000356587.4:n.451+41A>C
ENST00000367616.4:c.451+41A>C	ENSP00000356588.4:n.451+41A>C
NM_001297575.1:c.451+41A>C	NP_001284504.1:n.451+41A>C
NM_014625.3:c.451+41A>C , LRG_887t1:c.451+41A>C	NP_055440.1:n.451+41A>C
XM_005245483.2:c.275-1487A>C	XP_005245540.1:n.275-1487A>C
XM_006711529.2:c.451+41A>C	XP_006711592.1:n.451+41A>C
XM_005245483.3:c.275-1487A>C	XP_005245540.1:n.275-1487A>C
XM_017002298.1:c.379-1487A>C	XP_016857787.1:n.379-1487A>C
XM_017002299.1:c.451+41A>C	XP_016857788.1:n.451+41A>C
NM_001297575.2:c.451+41A>C	NP_001284504.1:n.451+41A>C
NM_014625.4:c.451+41A>C MANE Select	NP_055440.1:n.451+41A>C