|
ENST00000265593.9:c.1158C>T
(CLCN2)
MANE Select
|
ENSP00000265593.4:p.Phe386=
|
|
|
ENST00000475279.2:c.540C>T
(CLCN2)
|
|
|
|
ENST00000636180.1:c.*134C>T
(CLCN2)
|
ENSP00000490374.1:n.*134C>T
|
|
|
ENST00000636241.1:c.1049C>T
(CLCN2)
|
|
|
|
ENST00000636492.1:c.1041C>T
(CLCN2)
|
ENSP00000490313.1:p.Phe347=
|
|
|
ENST00000636658.1:c.419C>T
(CLCN2)
|
|
|
|
ENST00000636661.1:c.*1348C>T
(CLCN2)
|
ENSP00000490764.1:n.*1348C>T
|
|
|
ENST00000637392.1:n.2270C>T
(CLCN2)
|
|
|
|
ENST00000637538.1:c.464C>T
(CLCN2)
|
|
|
|
ENST00000637909.1:c.964C>T
(CLCN2)
|
|
|
|
ENST00000638134.1:c.966C>T
(CLCN2)
|
|
|
|
ENST00000265593.8:c.1158C>T
(CLCN2)
|
ENSP00000265593.4:p.Phe386=
|
|
|
ENST00000344937.11:c.1158C>T
(CLCN2)
|
ENSP00000345056.7:p.Phe386=
|
|
|
ENST00000430397.5:c.101C>T
(CLCN2)
|
|
|
|
ENST00000434054.6:c.1026C>T
(CLCN2)
|
ENSP00000400425.2:p.Phe342=
|
|
|
ENST00000444495.1:c.2106+210999G>A
(EIF2B5)
|
ENSP00000409142.1:n.2106+210999G>A
|
|
|
ENST00000457512.1:c.1158C>T
(CLCN2)
|
ENSP00000391928.1:p.Phe386=
|
|
|
ENST00000475279.1:n.176C>T
(CLCN2)
|
|
|
|
ENST00000485667.1:n.1165C>T
(CLCN2)
|
|
|
|
NM_001171087.2:c.1158C>T
(CLCN2)
|
NP_001164558.1:p.Phe386=
|
|
|
NM_001171088.2:c.1026C>T
(CLCN2)
|
NP_001164559.1:p.Phe342=
|
|
|
NM_001171089.2:c.1158C>T
(CLCN2)
|
NP_001164560.1:p.Phe386=
|
|
|
NM_004366.5:c.1158C>T
(CLCN2)
|
NP_004357.3:p.Phe386=
|
|
|
XM_006713489.1:c.1158C>T
(CLCN2)
|
XP_006713552.1:p.Phe386=
|
|
|
XM_006713490.1:c.-1C>T
(CLCN2)
|
XP_006713553.1:n.-1C>T
|
|
|
XM_011512401.1:c.1158C>T
(CLCN2)
|
XP_011510703.1:p.Phe386=
|
|
|
XM_011512402.1:c.1158C>T
(CLCN2)
|
XP_011510704.1:p.Phe386=
|
|
|
XM_006713490.2:c.-1C>T
(CLCN2)
|
XP_006713553.1:n.-1C>T
|
|
|
XR_001740001.1:n.1282C>T
(CLCN2)
|
|
|
|
XR_001740002.1:n.1282C>T
(CLCN2)
|
|
|
|
NM_004366.6:c.1158C>T
(CLCN2)
MANE Select
|
NP_004357.3:p.Phe386=
|
|
|
NM_001171087.3:c.1158C>T
(CLCN2)
|
NP_001164558.1:p.Phe386=
|
|
|
NM_001171088.3:c.1026C>T
(CLCN2)
|
NP_001164559.1:p.Phe342=
|
|
|
NM_001171089.3:c.1158C>T
(CLCN2)
|
NP_001164560.1:p.Phe386=
|
|
