Canonical Allele Identifier: CA354149
Gene: NPHS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.179575916G>C
GRCh37 chr1:g.179545051G>C
gnomAD v2:
1:179545051 G / C
gnomAD v3:
1:179575916 G / C
gnomAD v4:
chr1-179575916-G-C
Joint Max Group AF 0.20107785 (AFR)
Genomes Max Group AF 0.19671445 (AFR)
Exomes Max Group AF 0.20548514 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575916G>C , CM000663.2:g.179575916G>C GRCh38
NC_000001.10:g.179545051G>C , CM000663.1:g.179545051G>C GRCh37
NC_000001.9:g.177811674G>C NCBI36
NG_007535.1:g.5034C>G , LRG_887:g.5034C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.-52C>G MANE Select ENSP00000356587.4:n.-52C>G
ENST00000367615.8:c.-52C>G ENSP00000356587.4:n.-52C>G
ENST00000367616.4:c.-52C>G ENSP00000356588.4:n.-52C>G
NM_001297575.1:c.-52C>G NP_001284504.1:n.-52C>G
NM_014625.3:c.-52C>G , LRG_887t1:c.-52C>G NP_055440.1:n.-52C>G
XM_005245483.2:c.-52C>G XP_005245540.1:n.-52C>G
XM_006711529.2:c.-52C>G XP_006711592.1:n.-52C>G
XM_005245483.3:c.-52C>G XP_005245540.1:n.-52C>G
XM_017002298.1:c.-52C>G XP_016857787.1:n.-52C>G
XM_017002299.1:c.-52C>G XP_016857788.1:n.-52C>G
NM_001297575.2:c.-52C>G NP_001284504.1:n.-52C>G
NM_014625.4:c.-52C>G MANE Select NP_055440.1:n.-52C>G
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