|
ENST00000265593.9:c.1152A>T
(CLCN2)
MANE Select
|
ENSP00000265593.4:p.Gly384=
|
|
|
ENST00000475279.2:c.534A>T
(CLCN2)
|
|
|
|
ENST00000636180.1:c.*128A>T
(CLCN2)
|
ENSP00000490374.1:n.*128A>T
|
|
|
ENST00000636241.1:c.1043A>T
(CLCN2)
|
|
|
|
ENST00000636492.1:c.1035A>T
(CLCN2)
|
ENSP00000490313.1:p.Gly345=
|
|
|
ENST00000636658.1:c.413A>T
(CLCN2)
|
|
|
|
ENST00000636661.1:c.*1342A>T
(CLCN2)
|
ENSP00000490764.1:n.*1342A>T
|
|
|
ENST00000637392.1:n.2264A>T
(CLCN2)
|
|
|
|
ENST00000637538.1:c.458A>T
(CLCN2)
|
|
|
|
ENST00000637909.1:c.958A>T
(CLCN2)
|
|
|
|
ENST00000638134.1:c.960A>T
(CLCN2)
|
|
|
|
ENST00000265593.8:c.1152A>T
(CLCN2)
|
ENSP00000265593.4:p.Gly384=
|
|
|
ENST00000344937.11:c.1152A>T
(CLCN2)
|
ENSP00000345056.7:p.Gly384=
|
|
|
ENST00000430397.5:c.95A>T
(CLCN2)
|
|
|
|
ENST00000434054.6:c.1020A>T
(CLCN2)
|
ENSP00000400425.2:p.Gly340=
|
|
|
ENST00000444495.1:c.2106+211005T>A
(EIF2B5)
|
ENSP00000409142.1:n.2106+211005T>A
|
|
|
ENST00000457512.1:c.1152A>T
(CLCN2)
|
ENSP00000391928.1:p.Gly384=
|
|
|
ENST00000475279.1:n.170A>T
(CLCN2)
|
|
|
|
ENST00000485667.1:n.1159A>T
(CLCN2)
|
|
|
|
NM_001171087.2:c.1152A>T
(CLCN2)
|
NP_001164558.1:p.Gly384=
|
|
|
NM_001171088.2:c.1020A>T
(CLCN2)
|
NP_001164559.1:p.Gly340=
|
|
|
NM_001171089.2:c.1152A>T
(CLCN2)
|
NP_001164560.1:p.Gly384=
|
|
|
NM_004366.5:c.1152A>T
(CLCN2)
|
NP_004357.3:p.Gly384=
|
|
|
XM_006713489.1:c.1152A>T
(CLCN2)
|
XP_006713552.1:p.Gly384=
|
|
|
XM_006713490.1:c.-7A>T
(CLCN2)
|
XP_006713553.1:n.-7A>T
|
|
|
XM_011512401.1:c.1152A>T
(CLCN2)
|
XP_011510703.1:p.Gly384=
|
|
|
XM_011512402.1:c.1152A>T
(CLCN2)
|
XP_011510704.1:p.Gly384=
|
|
|
XM_006713490.2:c.-7A>T
(CLCN2)
|
XP_006713553.1:n.-7A>T
|
|
|
XR_001740001.1:n.1276A>T
(CLCN2)
|
|
|
|
XR_001740002.1:n.1276A>T
(CLCN2)
|
|
|
|
NM_004366.6:c.1152A>T
(CLCN2)
MANE Select
|
NP_004357.3:p.Gly384=
|
|
|
NM_001171087.3:c.1152A>T
(CLCN2)
|
NP_001164558.1:p.Gly384=
|
|
|
NM_001171088.3:c.1020A>T
(CLCN2)
|
NP_001164559.1:p.Gly340=
|
|
|
NM_001171089.3:c.1152A>T
(CLCN2)
|
NP_001164560.1:p.Gly384=
|
|
