Canonical Allele Identifier: CA1210322187
Gene: NPHS2 HGNC NCBI

Linked Data

dbSNP Id: rs1472684627

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179564957G>A , CM000663.2:g.179564957G>A GRCh38
NC_000001.10:g.179534092G>A , CM000663.1:g.179534092G>A GRCh37
NC_000001.9:g.177800715G>A NCBI36
NG_007535.1:g.15993C>T , LRG_887:g.15993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.275-164C>T MANE Select ENSP00000356587.4:n.275-164C>T
ENST00000367615.8:c.275-164C>T ENSP00000356587.4:n.275-164C>T
ENST00000367616.4:c.275-164C>T ENSP00000356588.4:n.275-164C>T
NM_001297575.1:c.275-164C>T NP_001284504.1:n.275-164C>T
NM_014625.3:c.275-164C>T , LRG_887t1:c.275-164C>T NP_055440.1:n.275-164C>T
XM_005245483.2:c.275-5196C>T XP_005245540.1:n.275-5196C>T
XM_006711529.2:c.275-164C>T XP_006711592.1:n.275-164C>T
XM_005245483.3:c.275-5196C>T XP_005245540.1:n.275-5196C>T
XM_017002298.1:c.275-164C>T XP_016857787.1:n.275-164C>T
XM_017002299.1:c.275-164C>T XP_016857788.1:n.275-164C>T
NM_001297575.2:c.275-164C>T NP_001284504.1:n.275-164C>T
NM_014625.4:c.275-164C>T MANE Select NP_055440.1:n.275-164C>T