| NM_004366.6:c.602C>T
                  (CLCN2)
                    
                              MANE Select | NP_004357.3:p.Pro201Leu | 
            
              | ENST00000265593.9:c.602C>T
                  (CLCN2)
                    
                        MANE Select | ENSP00000265593.4:p.Pro201Leu | 
            
              | NM_001171087.2:c.602C>T
                  (CLCN2) | NP_001164558.1:p.Pro201Leu | 
            
              | NM_001171087.3:c.602C>T
                  (CLCN2) | NP_001164558.1:p.Pro201Leu | 
            
              | NM_001171088.2:c.470C>T
                  (CLCN2) | NP_001164559.1:p.Pro157Leu | 
            
              | NM_001171088.3:c.470C>T
                  (CLCN2) | NP_001164559.1:p.Pro157Leu | 
            
              | NM_001171089.2:c.602C>T
                  (CLCN2) | NP_001164560.1:p.Pro201Leu | 
            
              | NM_001171089.3:c.602C>T
                  (CLCN2) | NP_001164560.1:p.Pro201Leu | 
            
              | NM_004366.5:c.602C>T
                  (CLCN2) | NP_004357.3:p.Pro201Leu | 
            
              | ENST00000265593.8:c.602C>T
                  (CLCN2) | ENSP00000265593.4:p.Pro201Leu | 
            
              | ENST00000344937.11:c.602C>T
                  (CLCN2) | ENSP00000345056.7:p.Pro201Leu | 
            
              | ENST00000434054.6:c.470C>T
                  (CLCN2) | ENSP00000400425.2:p.Pro157Leu | 
            
              | ENST00000444495.1:c.2106+213268G>A
                  (EIF2B5) | ENSP00000409142.1:n.2106+213268G>A | 
            
              | ENST00000457512.1:c.602C>T
                  (CLCN2) | ENSP00000391928.1:p.Pro201Leu | 
            
              | ENST00000465231.1:n.598C>T
                  (CLCN2) |  | 
            
              | ENST00000475279.2:c.75C>T
                  (CLCN2) |  | 
            
              | ENST00000485667.1:n.609C>T
                  (CLCN2) |  | 
            
              | ENST00000636180.1:c.602C>T
                  (CLCN2) | ENSP00000490374.1:p.Pro201Leu | 
            
              | ENST00000636241.1:c.571C>T
                  (CLCN2) |  | 
            
              | ENST00000636492.1:c.485C>T
                  (CLCN2) | ENSP00000490313.1:p.Pro162Leu | 
            
              | ENST00000636661.1:c.602C>T
                  (CLCN2) | ENSP00000490764.1:p.Pro201Leu | 
            
              | ENST00000637392.1:n.578C>T
                  (CLCN2) |  | 
            
              | ENST00000637909.1:c.310C>T
                  (CLCN2) |  | 
            
              | ENST00000638134.1:c.567C>T
                  (CLCN2) |  | 
            
              | XM_006713489.1:c.602C>T
                  (CLCN2) | XP_006713552.1:p.Pro201Leu | 
            
              | XM_006713490.2:c.-466C>T
                  (CLCN2) | XP_006713553.1:n.-466C>T | 
            
              | XM_011512401.1:c.602C>T
                  (CLCN2) | XP_011510703.1:p.Pro201Leu | 
            
              | XM_011512402.1:c.602C>T
                  (CLCN2) | XP_011510704.1:p.Pro201Leu | 
            
              | XR_001740001.1:n.726C>T
                  (CLCN2) |  | 
            
              | XR_001740002.1:n.726C>T
                  (CLCN2) |  |