Canonical Allele Identifier: CA343553051
Gene: NPHS2 HGNC NCBI

Linked Data

dbSNP Id: rs1363776277

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575666C>G , CM000663.2:g.179575666C>G GRCh38
NC_000001.10:g.179544801C>G , CM000663.1:g.179544801C>G GRCh37
NC_000001.9:g.177811424C>G NCBI36
NG_007535.1:g.5284G>C , LRG_887:g.5284G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.199G>C MANE Select ENSP00000356587.4:p.Val67Leu
ENST00000367615.8:c.199G>C ENSP00000356587.4:p.Val67Leu
ENST00000367616.4:c.199G>C ENSP00000356588.4:p.Val67Leu
NM_001297575.1:c.199G>C NP_001284504.1:p.Val67Leu
NM_014625.3:c.199G>C , LRG_887t1:c.199G>C NP_055440.1:p.Val67Leu
XM_005245483.2:c.199G>C XP_005245540.1:p.Val67Leu
XM_006711529.2:c.199G>C XP_006711592.1:p.Val67Leu
XM_005245483.3:c.199G>C XP_005245540.1:p.Val67Leu
XM_017002298.1:c.199G>C XP_016857787.1:p.Val67Leu
XM_017002299.1:c.199G>C XP_016857788.1:p.Val67Leu
NM_001297575.2:c.199G>C NP_001284504.1:p.Val67Leu
NM_014625.4:c.199G>C MANE Select NP_055440.1:p.Val67Leu