Canonical Allele Identifier: CA354118
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 224481
ClinVar RCV Id: RCV000210047
dbSNP Id: rs869312746
MyVariant Identifiers: chr1:g.179544885G>A (hg19) chr1:g.179575750G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575750G>A , CM000663.2:g.179575750G>A GRCh38
NC_000001.10:g.179544885G>A , CM000663.1:g.179544885G>A GRCh37
NC_000001.9:g.177811508G>A NCBI36
NG_007535.1:g.5200C>T , LRG_887:g.5200C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.9:c.115C>T MANE Select ENSP00000356587.4:p.Gln39Ter
ENST00000367615.8:c.115C>T ENSP00000356587.4:p.Gln39Ter
ENST00000367616.4:c.115C>T ENSP00000356588.4:p.Gln39Ter
NM_001297575.1:c.115C>T NP_001284504.1:p.Gln39Ter
NM_014625.3:c.115C>T , LRG_887t1:c.115C>T NP_055440.1:p.Gln39Ter
XM_005245483.2:c.115C>T XP_005245540.1:p.Gln39Ter
XM_006711529.2:c.115C>T XP_006711592.1:p.Gln39Ter
XM_005245483.3:c.115C>T XP_005245540.1:p.Gln39Ter
XM_017002298.1:c.115C>T XP_016857787.1:p.Gln39Ter
XM_017002299.1:c.115C>T XP_016857788.1:p.Gln39Ter
NM_001297575.2:c.115C>T NP_001284504.1:p.Gln39Ter
NM_014625.4:c.115C>T MANE Select NP_055440.1:p.Gln39Ter
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