Canonical Allele Identifier: CA1267067
Gene: NPHS2 HGNC NCBI
AXDND1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370718
dbSNP Id: rs199506378

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179551435G>A , CM000663.2:g.179551435G>A GRCh38
NC_000001.10:g.179520570G>A , CM000663.1:g.179520570G>A GRCh37
NC_000001.9:g.177787193G>A NCBI36
NG_007535.1:g.29515C>T , LRG_887:g.29515C>T
NG_033075.1:g.190716G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367615.9:c.890C>T (NPHS2) MANE Select ENSP00000356587.4:p.Ala297Val
ENST00000367618.8:c.3032-3077G>A (AXDND1) MANE Select ENSP00000356590.3:n.3032-3077G>A
ENST00000367615.8:c.890C>T (NPHS2) ENSP00000356587.4:p.Ala297Val
ENST00000367616.4:c.686C>T (NPHS2) ENSP00000356588.4:p.Ala229Val
ENST00000367618.7:c.3032-3077G>A (AXDND1) ENSP00000356590.3:n.3032-3077G>A
ENST00000434088.1:c.2612-3077G>A (AXDND1) ENSP00000391716.1:n.2612-3077G>A
ENST00000457238.6:c.*1011-3077G>A (AXDND1) ENSP00000416712.3:n.*1011-3077G>A
ENST00000484455.1:n.471-3077G>A (AXDND1)
ENST00000484883.1:n.911-3077G>A (AXDND1)
ENST00000489080.1:n.369G>A (AXDND1)
ENST00000511157.5:c.*1301-3077G>A (AXDND1) ENSP00000424373.1:n.*1301-3077G>A
ENST00000617277.4:c.*1207-3077G>A (AXDND1) ENSP00000482167.1:n.*1207-3077G>A
NM_001297575.1:c.686C>T (NPHS2) NP_001284504.1:p.Ala229Val
NM_014625.3:c.890C>T , LRG_887t1:c.890C>T (NPHS2) NP_055440.1:p.Ala297Val
NM_144696.5:c.3032-3077G>A (AXDND1) NP_653297.3:n.3032-3077G>A
NR_073544.1:n.3152-3077G>A (AXDND1)
XM_005245483.2:c.713C>T (NPHS2) XP_005245540.1:p.Ala238Val
XM_011509165.1:c.3038-3077G>A (AXDND1) XP_011507467.1:n.3038-3077G>A
XM_011509166.1:c.3038-3077G>A (AXDND1) XP_011507468.1:n.3038-3077G>A
XM_011509167.1:c.3038-3077G>A (AXDND1) XP_011507469.1:n.3038-3077G>A
XM_011509168.1:c.3038-3077G>A (AXDND1) XP_011507470.1:n.3038-3077G>A
XM_011509169.1:c.2975-3077G>A (AXDND1) XP_011507471.1:n.2975-3077G>A
XM_011509170.1:c.2930-3077G>A (AXDND1) XP_011507472.1:n.2930-3077G>A
XM_011509171.1:c.2912-3077G>A (AXDND1) XP_011507473.1:n.2912-3077G>A
XM_011509172.1:c.2912-3077G>A (AXDND1) XP_011507474.1:n.2912-3077G>A
XM_011509173.1:c.2912-3077G>A (AXDND1) XP_011507475.1:n.2912-3077G>A
XM_011509174.1:c.2816-3077G>A (AXDND1) XP_011507476.1:n.2816-3077G>A
XM_011509175.1:c.2810-3077G>A (AXDND1) XP_011507477.1:n.2810-3077G>A
XM_011509176.1:c.2741-3077G>A (AXDND1) XP_011507478.1:n.2741-3077G>A
XM_011509179.1:c.2402-3077G>A (AXDND1) XP_011507481.1:n.2402-3077G>A
XM_011509181.1:c.1961-3077G>A (AXDND1) XP_011507483.1:n.1961-3077G>A
XM_005245483.3:c.713C>T (NPHS2) XP_005245540.1:p.Ala238Val
XM_011509166.3:c.3038-3077G>A (AXDND1) XP_011507468.1:n.3038-3077G>A
XM_011509167.3:c.3038-3077G>A (AXDND1) XP_011507469.1:n.3038-3077G>A
XM_011509179.2:c.2402-3077G>A (AXDND1) XP_011507481.1:n.2402-3077G>A
XM_011509181.2:c.1961-3077G>A (AXDND1) XP_011507483.1:n.1961-3077G>A
XM_017000257.2:c.2297-3077G>A (AXDND1) XP_016855746.1:n.2297-3077G>A
XM_017000258.2:c.2159-3077G>A (AXDND1) XP_016855747.1:n.2159-3077G>A
XM_017002298.1:c.557C>T (NPHS2) XP_016857787.1:p.Ala186Val
XM_024453104.1:c.2912-3077G>A (AXDND1) XP_024308872.1:n.2912-3077G>A
XM_024453107.1:c.2912-3077G>A (AXDND1) XP_024308875.1:n.2912-3077G>A
NM_144696.6:c.3032-3077G>A (AXDND1) MANE Select NP_653297.3:n.3032-3077G>A
NM_001297575.2:c.686C>T (NPHS2) NP_001284504.1:p.Ala229Val
NM_014625.4:c.890C>T (NPHS2) MANE Select NP_055440.1:p.Ala297Val
NR_073544.2:n.3080-3077G>A (AXDND1)