Canonical Allele Identifier: CA354121
Gene: NPHS2 HGNC NCBI
AXDND1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 224482
ClinVar RCV Id: RCV000210051
dbSNP Id: rs869312747

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179552664G>A , CM000663.2:g.179552664G>A GRCh38
NC_000001.10:g.179521799G>A , CM000663.1:g.179521799G>A GRCh37
NC_000001.9:g.177788422G>A NCBI36
NG_007535.1:g.28286C>T , LRG_887:g.28286C>T
NG_033075.1:g.191945G>A

Transcript Alleles

HGVS Amino-acid change
NM_001297575.1:c.608C>T (NPHS2) VV NP_001284504.1:p.Pro203Leu
NM_014625.3:c.812C>T , LRG_887t1:c.812C>T (NPHS2) NP_055440.1:p.Pro271Leu
NM_144696.5:c.3032-1848G>A (AXDND1) VV NP_653297.3:p.=
NR_073544.1:n.3152-1848G>A (AXDND1)
XM_005245483.2:c.635C>T (NPHS2) XP_005245540.1:p.Pro212Leu
XM_006711529.2:c.812C>T (NPHS2) XP_006711592.1:p.Pro271Leu
XM_011509165.1:c.3038-1848G>A (AXDND1) XP_011507467.1:p.=
XM_011509166.1:c.3038-1848G>A (AXDND1) XP_011507468.1:p.=
XM_011509167.1:c.3038-1848G>A (AXDND1) XP_011507469.1:p.=
XM_011509168.1:c.3038-1848G>A (AXDND1) XP_011507470.1:p.=
XM_011509169.1:c.2975-1848G>A (AXDND1) XP_011507471.1:p.=
XM_011509170.1:c.2930-1848G>A (AXDND1) XP_011507472.1:p.=
XM_011509171.1:c.2912-1848G>A (AXDND1) XP_011507473.1:p.=
XM_011509172.1:c.2912-1848G>A (AXDND1) XP_011507474.1:p.=
XM_011509173.1:c.2912-1848G>A (AXDND1) XP_011507475.1:p.=
XM_011509174.1:c.2816-1848G>A (AXDND1) XP_011507476.1:p.=
XM_011509175.1:c.2810-1848G>A (AXDND1) XP_011507477.1:p.=
XM_011509176.1:c.2741-1848G>A (AXDND1) XP_011507478.1:p.=
XM_011509179.1:c.2402-1848G>A (AXDND1) XP_011507481.1:p.=
XM_011509181.1:c.1961-1848G>A (AXDND1) XP_011507483.1:p.=
XM_005245483.3:c.635C>T (NPHS2)
XM_011509166.3:c.3038-1848G>A (AXDND1)
XM_011509167.3:c.3038-1848G>A (AXDND1)
XM_011509179.2:c.2402-1848G>A (AXDND1)
XM_011509181.2:c.1961-1848G>A (AXDND1)
XM_017000257.2:c.2297-1848G>A (AXDND1) XP_016855746.1:p.=
XM_017000258.2:c.2159-1848G>A (AXDND1) XP_016855747.1:p.=
XM_017002298.1:c.479C>T (NPHS2) XP_016857787.1:p.Pro160Leu
XM_017002299.1:c.*15C>T (NPHS2) XP_016857788.1:p.=
XM_024453104.1:c.2912-1848G>A (AXDND1) XP_024308872.1:p.=
XM_024453107.1:c.2912-1848G>A (AXDND1) XP_024308875.1:p.=
ENST00000367615.8:c.812C>T ENSP00000356587.4:p.Pro271Leu
ENST00000367616.4:c.608C>T ENSP00000356588.4:p.Pro203Leu
ENST00000367618.7:c.3032-1848G>A ENSP00000356590.3:p.=
ENST00000434088.1:n.2612-1848G>A ENSP00000391716.1:p.=
ENST00000457238.6:c.*1011-1848G>A ENSP00000416712.3:p.=
ENST00000484455.1:n.471-1848G>A
ENST00000484883.1:n.911-1848G>A
ENST00000489080.1:n.1598G>A
ENST00000511157.5:c.*1301-1848G>A ENSP00000424373.1:p.=
ENST00000617277.4:c.*1207-1848G>A ENSP00000482167.1:p.=