|
ENST00000265593.9:c.1164T>A
(CLCN2)
MANE Select
|
ENSP00000265593.4:p.Ala388=
|
|
|
ENST00000475279.2:c.546T>A
(CLCN2)
|
|
|
|
ENST00000636180.1:c.*140T>A
(CLCN2)
|
ENSP00000490374.1:n.*140T>A
|
|
|
ENST00000636241.1:c.1055T>A
(CLCN2)
|
|
|
|
ENST00000636492.1:c.1047T>A
(CLCN2)
|
ENSP00000490313.1:p.Ala349=
|
|
|
ENST00000636658.1:c.425T>A
(CLCN2)
|
|
|
|
ENST00000636661.1:c.*1354T>A
(CLCN2)
|
ENSP00000490764.1:n.*1354T>A
|
|
|
ENST00000637392.1:n.2276T>A
(CLCN2)
|
|
|
|
ENST00000637538.1:c.470T>A
(CLCN2)
|
|
|
|
ENST00000637909.1:c.970T>A
(CLCN2)
|
|
|
|
ENST00000638134.1:c.972T>A
(CLCN2)
|
|
|
|
ENST00000265593.8:c.1164T>A
(CLCN2)
|
ENSP00000265593.4:p.Ala388=
|
|
|
ENST00000344937.11:c.1164T>A
(CLCN2)
|
ENSP00000345056.7:p.Ala388=
|
|
|
ENST00000430397.5:c.107T>A
(CLCN2)
|
|
|
|
ENST00000434054.6:c.1032T>A
(CLCN2)
|
ENSP00000400425.2:p.Ala344=
|
|
|
ENST00000444495.1:c.2106+210993A>T
(EIF2B5)
|
ENSP00000409142.1:n.2106+210993A>T
|
|
|
ENST00000457512.1:c.1164T>A
(CLCN2)
|
ENSP00000391928.1:p.Ala388=
|
|
|
ENST00000475279.1:n.182T>A
(CLCN2)
|
|
|
|
ENST00000485667.1:n.1171T>A
(CLCN2)
|
|
|
|
NM_001171087.2:c.1164T>A
(CLCN2)
|
NP_001164558.1:p.Ala388=
|
|
|
NM_001171088.2:c.1032T>A
(CLCN2)
|
NP_001164559.1:p.Ala344=
|
|
|
NM_001171089.2:c.1164T>A
(CLCN2)
|
NP_001164560.1:p.Ala388=
|
|
|
NM_004366.5:c.1164T>A
(CLCN2)
|
NP_004357.3:p.Ala388=
|
|
|
XM_006713489.1:c.1164T>A
(CLCN2)
|
XP_006713552.1:p.Ala388=
|
|
|
XM_006713490.1:c.6T>A
(CLCN2)
|
XP_006713553.1:p.Ala2=
|
|
|
XM_011512401.1:c.1164T>A
(CLCN2)
|
XP_011510703.1:p.Ala388=
|
|
|
XM_011512402.1:c.1164T>A
(CLCN2)
|
XP_011510704.1:p.Ala388=
|
|
|
XM_006713490.2:c.6T>A
(CLCN2)
|
XP_006713553.1:p.Ala2=
|
|
|
XR_001740001.1:n.1288T>A
(CLCN2)
|
|
|
|
XR_001740002.1:n.1288T>A
(CLCN2)
|
|
|
|
NM_004366.6:c.1164T>A
(CLCN2)
MANE Select
|
NP_004357.3:p.Ala388=
|
|
|
NM_001171087.3:c.1164T>A
(CLCN2)
|
NP_001164558.1:p.Ala388=
|
|
|
NM_001171088.3:c.1032T>A
(CLCN2)
|
NP_001164559.1:p.Ala344=
|
|
|
NM_001171089.3:c.1164T>A
(CLCN2)
|
NP_001164560.1:p.Ala388=
|
|
