Canonical Allele Identifier: CA10581521
Gene: NPHS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 236187
ClinVar RCV Id: RCV000225076
dbSNP Id: rs878853214
MyVariant Identifiers: chr1:g.179533984A>C (hg19) chr1:g.179564849A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179564849A>C , CM000663.2:g.179564849A>C GRCh38
NC_000001.10:g.179533984A>C , CM000663.1:g.179533984A>C GRCh37
NC_000001.9:g.177800607A>C NCBI36
NG_007535.1:g.16101T>G , LRG_887:g.16101T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.9:c.275-56T>G MANE Select ENSP00000356587.4:n.275-56T>G
ENST00000367615.8:c.275-56T>G ENSP00000356587.4:n.275-56T>G
ENST00000367616.4:c.275-56T>G ENSP00000356588.4:n.275-56T>G
NM_001297575.1:c.275-56T>G NP_001284504.1:n.275-56T>G
NM_014625.3:c.275-56T>G , LRG_887t1:c.275-56T>G NP_055440.1:n.275-56T>G
XM_005245483.2:c.275-5088T>G XP_005245540.1:n.275-5088T>G
XM_006711529.2:c.275-56T>G XP_006711592.1:n.275-56T>G
XM_005245483.3:c.275-5088T>G XP_005245540.1:n.275-5088T>G
XM_017002298.1:c.275-56T>G XP_016857787.1:n.275-56T>G
XM_017002299.1:c.275-56T>G XP_016857788.1:n.275-56T>G
NM_001297575.2:c.275-56T>G NP_001284504.1:n.275-56T>G
NM_014625.4:c.275-56T>G MANE Select NP_055440.1:n.275-56T>G
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