|
ENST00000265593.9:c.1116G>C
(CLCN2)
MANE Select
|
ENSP00000265593.4:p.Leu372=
|
|
|
ENST00000475279.2:c.498G>C
(CLCN2)
|
|
|
|
ENST00000636180.1:c.*92G>C
(CLCN2)
|
ENSP00000490374.1:n.*92G>C
|
|
|
ENST00000636241.1:c.1007G>C
(CLCN2)
|
|
|
|
ENST00000636492.1:c.999G>C
(CLCN2)
|
ENSP00000490313.1:p.Leu333=
|
|
|
ENST00000636658.1:c.377G>C
(CLCN2)
|
|
|
|
ENST00000636661.1:c.*1306G>C
(CLCN2)
|
ENSP00000490764.1:n.*1306G>C
|
|
|
ENST00000637392.1:n.2228G>C
(CLCN2)
|
|
|
|
ENST00000637538.1:c.422G>C
(CLCN2)
|
|
|
|
ENST00000637909.1:c.922G>C
(CLCN2)
|
|
|
|
ENST00000638134.1:c.924G>C
(CLCN2)
|
|
|
|
ENST00000265593.8:c.1116G>C
(CLCN2)
|
ENSP00000265593.4:p.Leu372=
|
|
|
ENST00000344937.11:c.1116G>C
(CLCN2)
|
ENSP00000345056.7:p.Leu372=
|
|
|
ENST00000430397.5:c.59G>C
(CLCN2)
|
|
|
|
ENST00000434054.6:c.984G>C
(CLCN2)
|
ENSP00000400425.2:p.Leu328=
|
|
|
ENST00000444495.1:c.2106+211041C>G
(EIF2B5)
|
ENSP00000409142.1:n.2106+211041C>G
|
|
|
ENST00000457512.1:c.1116G>C
(CLCN2)
|
ENSP00000391928.1:p.Leu372=
|
|
|
ENST00000475279.1:n.134G>C
(CLCN2)
|
|
|
|
ENST00000485667.1:n.1123G>C
(CLCN2)
|
|
|
|
NM_001171087.2:c.1116G>C
(CLCN2)
|
NP_001164558.1:p.Leu372=
|
|
|
NM_001171088.2:c.984G>C
(CLCN2)
|
NP_001164559.1:p.Leu328=
|
|
|
NM_001171089.2:c.1116G>C
(CLCN2)
|
NP_001164560.1:p.Leu372=
|
|
|
NM_004366.5:c.1116G>C
(CLCN2)
|
NP_004357.3:p.Leu372=
|
|
|
XM_006713489.1:c.1116G>C
(CLCN2)
|
XP_006713552.1:p.Leu372=
|
|
|
XM_006713490.1:c.-43G>C
(CLCN2)
|
XP_006713553.1:n.-43G>C
|
|
|
XM_011512401.1:c.1116G>C
(CLCN2)
|
XP_011510703.1:p.Leu372=
|
|
|
XM_011512402.1:c.1116G>C
(CLCN2)
|
XP_011510704.1:p.Leu372=
|
|
|
XM_006713490.2:c.-43G>C
(CLCN2)
|
XP_006713553.1:n.-43G>C
|
|
|
XR_001740001.1:n.1240G>C
(CLCN2)
|
|
|
|
XR_001740002.1:n.1240G>C
(CLCN2)
|
|
|
|
NM_004366.6:c.1116G>C
(CLCN2)
MANE Select
|
NP_004357.3:p.Leu372=
|
|
|
NM_001171087.3:c.1116G>C
(CLCN2)
|
NP_001164558.1:p.Leu372=
|
|
|
NM_001171088.3:c.984G>C
(CLCN2)
|
NP_001164559.1:p.Leu328=
|
|
|
NM_001171089.3:c.1116G>C
(CLCN2)
|
NP_001164560.1:p.Leu372=
|
|
