Canonical Allele Identifier: CA343565085
Gene: NPHS2 HGNC NCBI
AXDND1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179551180A>C , CM000663.2:g.179551180A>C GRCh38
NC_000001.10:g.179520315A>C , CM000663.1:g.179520315A>C GRCh37
NC_000001.9:g.177786938A>C NCBI36
NG_007535.1:g.29770T>G , LRG_887:g.29770T>G
NG_033075.1:g.190461A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.1145T>G (NPHS2) MANE Select ENSP00000356587.4:p.Met382Arg
ENST00000367618.8:c.3032-3332A>C (AXDND1) MANE Select ENSP00000356590.3:n.3032-3332A>C
ENST00000367615.8:c.1145T>G (NPHS2) ENSP00000356587.4:p.Met382Arg
ENST00000367616.4:c.941T>G (NPHS2) ENSP00000356588.4:p.Met314Arg
ENST00000367618.7:c.3032-3332A>C (AXDND1) ENSP00000356590.3:n.3032-3332A>C
ENST00000434088.1:c.2612-3332A>C (AXDND1) ENSP00000391716.1:n.2612-3332A>C
ENST00000457238.6:c.*1011-3332A>C (AXDND1) ENSP00000416712.3:n.*1011-3332A>C
ENST00000484455.1:n.471-3332A>C (AXDND1)
ENST00000484883.1:n.911-3332A>C (AXDND1)
ENST00000489080.1:n.114A>C (AXDND1)
ENST00000511157.5:c.*1301-3332A>C (AXDND1) ENSP00000424373.1:n.*1301-3332A>C
ENST00000617277.4:c.*1207-3332A>C (AXDND1) ENSP00000482167.1:n.*1207-3332A>C
NM_001297575.1:c.941T>G (NPHS2) NP_001284504.1:p.Met314Arg
NM_014625.3:c.1145T>G , LRG_887t1:c.1145T>G (NPHS2) NP_055440.1:p.Met382Arg
NM_144696.5:c.3032-3332A>C (AXDND1) NP_653297.3:n.3032-3332A>C
NR_073544.1:n.3152-3332A>C (AXDND1)
XM_005245483.2:c.968T>G (NPHS2) XP_005245540.1:p.Met323Arg
XM_011509165.1:c.3038-3332A>C (AXDND1) XP_011507467.1:n.3038-3332A>C
XM_011509166.1:c.3038-3332A>C (AXDND1) XP_011507468.1:n.3038-3332A>C
XM_011509167.1:c.3038-3332A>C (AXDND1) XP_011507469.1:n.3038-3332A>C
XM_011509168.1:c.3038-3332A>C (AXDND1) XP_011507470.1:n.3038-3332A>C
XM_011509169.1:c.2975-3332A>C (AXDND1) XP_011507471.1:n.2975-3332A>C
XM_011509170.1:c.2930-3332A>C (AXDND1) XP_011507472.1:n.2930-3332A>C
XM_011509171.1:c.2912-3332A>C (AXDND1) XP_011507473.1:n.2912-3332A>C
XM_011509172.1:c.2912-3332A>C (AXDND1) XP_011507474.1:n.2912-3332A>C
XM_011509173.1:c.2912-3332A>C (AXDND1) XP_011507475.1:n.2912-3332A>C
XM_011509174.1:c.2816-3332A>C (AXDND1) XP_011507476.1:n.2816-3332A>C
XM_011509175.1:c.2810-3332A>C (AXDND1) XP_011507477.1:n.2810-3332A>C
XM_011509176.1:c.2741-3332A>C (AXDND1) XP_011507478.1:n.2741-3332A>C
XM_011509179.1:c.2402-3332A>C (AXDND1) XP_011507481.1:n.2402-3332A>C
XM_011509181.1:c.1961-3332A>C (AXDND1) XP_011507483.1:n.1961-3332A>C
XM_005245483.3:c.968T>G (NPHS2) XP_005245540.1:p.Met323Arg
XM_011509166.3:c.3038-3332A>C (AXDND1) XP_011507468.1:n.3038-3332A>C
XM_011509167.3:c.3038-3332A>C (AXDND1) XP_011507469.1:n.3038-3332A>C
XM_011509179.2:c.2402-3332A>C (AXDND1) XP_011507481.1:n.2402-3332A>C
XM_011509181.2:c.1961-3332A>C (AXDND1) XP_011507483.1:n.1961-3332A>C
XM_017000257.2:c.2297-3332A>C (AXDND1) XP_016855746.1:n.2297-3332A>C
XM_017000258.2:c.2159-3332A>C (AXDND1) XP_016855747.1:n.2159-3332A>C
XM_017002298.1:c.812T>G (NPHS2) XP_016857787.1:p.Met271Arg
XM_024453104.1:c.2912-3332A>C (AXDND1) XP_024308872.1:n.2912-3332A>C
XM_024453107.1:c.2912-3332A>C (AXDND1) XP_024308875.1:n.2912-3332A>C
NM_144696.6:c.3032-3332A>C (AXDND1) MANE Select NP_653297.3:n.3032-3332A>C
NM_001297575.2:c.941T>G (NPHS2) NP_001284504.1:p.Met314Arg
NM_014625.4:c.1145T>G (NPHS2) MANE Select NP_055440.1:p.Met382Arg
NR_073544.2:n.3080-3332A>C (AXDND1)