Canonical Allele Identifier: CA1210318312
Gene: NPHS2 HGNC NCBI
AXDND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179554555T= , CM000663.2:g.179554555T= GRCh38
NC_000001.10:g.179523690T= , CM000663.1:g.179523690T= GRCh37
NC_000001.9:g.177790313T= NCBI36
NG_007535.1:g.26395A= , LRG_887:g.26395A=
NG_033075.1:g.193836T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000367615.9:c.739-24A= (NPHS2) MANE Select ENSP00000356587.4:n.739-24A=
ENST00000367618.8:c.*36T= (AXDND1) MANE Select ENSP00000356590.3:n.*36T=
ENST00000367615.8:c.739-24A= (NPHS2) ENSP00000356587.4:n.739-24A=
ENST00000367616.4:c.535-24A= (NPHS2) ENSP00000356588.4:n.535-24A=
ENST00000367618.7:c.*36T= (AXDND1) ENSP00000356590.3:n.*36T=
ENST00000434088.1:c.2655T= (AXDND1) ENSP00000391716.1:n.2655T=
ENST00000457238.6:c.*1054T= (AXDND1) ENSP00000416712.3:n.*1054T=
ENST00000484455.1:n.514T= (AXDND1)
ENST00000484883.1:n.954T= (AXDND1)
ENST00000489080.1:n.1679T= (AXDND1)
ENST00000511157.5:c.*1344T= (AXDND1) ENSP00000424373.1:n.*1344T=
ENST00000617277.4:c.*1250T= (AXDND1) ENSP00000482167.1:n.*1250T=
NM_001297575.1:c.535-24A= (NPHS2) NP_001284504.1:n.535-24A=
NM_014625.3:c.739-24A= , LRG_887t1:c.739-24A= (NPHS2) NP_055440.1:n.739-24A=
NM_144696.5:c.*36T= (AXDND1) NP_653297.3:n.*36T=
NR_073544.1:n.3195T= (AXDND1)
XM_005245483.2:c.562-24A= (NPHS2) XP_005245540.1:n.562-24A=
XM_006711529.2:c.739-24A= (NPHS2) XP_006711592.1:n.739-24A=
XM_011509165.1:c.*36T= (AXDND1) XP_011507467.1:n.*36T=
XM_011509166.1:c.*36T= (AXDND1) XP_011507468.1:n.*36T=
XM_011509167.1:c.*36T= (AXDND1) XP_011507469.1:n.*36T=
XM_011509168.1:c.*36T= (AXDND1) XP_011507470.1:n.*36T=
XM_011509169.1:c.*36T= (AXDND1) XP_011507471.1:n.*36T=
XM_011509170.1:c.*36T= (AXDND1) XP_011507472.1:n.*36T=
XM_011509171.1:c.*36T= (AXDND1) XP_011507473.1:n.*36T=
XM_011509172.1:c.*36T= (AXDND1) XP_011507474.1:n.*36T=
XM_011509173.1:c.*36T= (AXDND1) XP_011507475.1:n.*36T=
XM_011509174.1:c.*36T= (AXDND1) XP_011507476.1:n.*36T=
XM_011509175.1:c.*36T= (AXDND1) XP_011507477.1:n.*36T=
XM_011509176.1:c.*36T= (AXDND1) XP_011507478.1:n.*36T=
XM_011509179.1:c.*36T= (AXDND1) XP_011507481.1:n.*36T=
XM_011509181.1:c.*36T= (AXDND1) XP_011507483.1:n.*36T=
XM_005245483.3:c.562-24A= (NPHS2) XP_005245540.1:n.562-24A=
XM_011509166.3:c.*36T= (AXDND1) XP_011507468.1:n.*36T=
XM_011509167.3:c.*36T= (AXDND1) XP_011507469.1:n.*36T=
XM_011509179.2:c.*36T= (AXDND1) XP_011507481.1:n.*36T=
XM_011509181.2:c.*36T= (AXDND1) XP_011507483.1:n.*36T=
XM_017000257.2:c.*36T= (AXDND1) XP_016855746.1:n.*36T=
XM_017000258.2:c.*36T= (AXDND1) XP_016855747.1:n.*36T=
XM_017002298.1:c.462-1874A= (NPHS2) XP_016857787.1:n.462-1874A=
XM_017002299.1:c.535-1874A= (NPHS2) XP_016857788.1:n.535-1874A=
XM_024453104.1:c.*36T= (AXDND1) XP_024308872.1:n.*36T=
XM_024453107.1:c.*36T= (AXDND1) XP_024308875.1:n.*36T=
NM_144696.6:c.*36T= (AXDND1) MANE Select NP_653297.3:n.*36T=
NM_001297575.2:c.535-24A= (NPHS2) NP_001284504.1:n.535-24A=
NM_014625.4:c.739-24A= (NPHS2) MANE Select NP_055440.1:n.739-24A=
NR_073544.2:n.3123T= (AXDND1)