|
ENST00000412351.2:n.900T>C
(BSCL2)
|
|
|
|
ENST00000449636.6:c.216T>C
(BSCL2)
|
ENSP00000405265.2:p.Phe72=
|
|
|
ENST00000524862.6:c.708T>C
(BSCL2)
|
ENSP00000433888.2:p.Phe236=
|
|
|
ENST00000682003.1:n.809-247T>C
(BSCL2)
|
|
|
|
ENST00000682223.1:c.708T>C
(BSCL2)
|
ENSP00000508140.1:p.Phe236=
|
|
|
ENST00000682262.1:c.631-1299T>C
(BSCL2)
|
ENSP00000507103.1:n.631-1299T>C
|
|
|
ENST00000682555.1:c.631-5T>C
(BSCL2)
|
ENSP00000507814.1:n.631-5T>C
|
|
|
ENST00000682644.1:n.1100T>C
(BSCL2)
|
|
|
|
ENST00000682794.1:n.1018T>C
(BSCL2)
|
|
|
|
ENST00000683025.1:c.*355T>C
(BSCL2)
|
ENSP00000507028.1:n.*355T>C
|
|
|
ENST00000683296.1:c.708T>C
(BSCL2)
|
ENSP00000507725.1:p.Phe236=
|
|
|
ENST00000683368.1:n.899T>C
(BSCL2)
|
|
|
|
ENST00000683494.1:n.1100T>C
(BSCL2)
|
|
|
|
ENST00000683846.1:n.1048T>C
(BSCL2)
|
|
|
|
ENST00000683892.1:n.1210T>C
(BSCL2)
|
|
|
|
ENST00000684067.1:c.708T>C
(BSCL2)
|
ENSP00000506799.1:p.Phe236=
|
|
|
ENST00000684115.1:n.1100T>C
(BSCL2)
|
|
|
|
ENST00000684258.1:n.1136T>C
(BSCL2)
|
|
|
|
ENST00000684285.1:c.*215T>C
(BSCL2)
|
ENSP00000507669.1:n.*215T>C
|
|
|
ENST00000684475.1:c.631-247T>C
(BSCL2)
|
ENSP00000507429.1:n.631-247T>C
|
|
|
ENST00000684609.1:n.1100T>C
(BSCL2)
|
|
|
|
ENST00000684720.1:n.1100T>C
(BSCL2)
|
|
|
|
ENST00000360796.10:c.708T>C
(BSCL2)
MANE Select
|
ENSP00000354032.5:p.Phe236=
|
|
|
ENST00000679883.1:c.708T>C
(BSCL2)
|
ENSP00000505838.1:p.Phe236=
|
|
|
ENST00000278893.11:c.516T>C
(BSCL2)
|
ENSP00000278893.7:p.Phe172=
|
|
|
ENST00000301781.10:c.653T>C
(BSCL2)
|
ENSP00000301781.5:p.Leu218Ser
|
|
|
ENST00000360796.9:c.708T>C
(BSCL2)
|
ENSP00000354032.5:p.Phe236=
|
|
|
ENST00000403098.6:c.30T>C
(BSCL2)
|
ENSP00000384258.2:p.Phe10=
|
|
|
ENST00000403550.5:c.516T>C
(BSCL2)
|
ENSP00000385561.1:p.Phe172=
|
|
|
ENST00000403734.2:c.*759T>C
(HNRNPUL2-BSCL2)
|
ENSP00000456010.1:n.*759T>C
|
|
|
ENST00000405837.5:c.708T>C
(BSCL2)
|
ENSP00000385332.1:p.Phe236=
|
|
|
ENST00000407022.7:c.516T>C
(BSCL2)
|
ENSP00000384080.3:p.Phe172=
|
|
|
ENST00000412351.1:n.306T>C
(BSCL2)
|
|
|
|
ENST00000421906.5:c.516T>C
(BSCL2)
|
ENSP00000413209.1:p.Phe172=
|
|
|
ENST00000448568.6:c.516T>C
(BSCL2)
|
ENSP00000413340.2:p.Phe172=
|
|
|
ENST00000468505.5:n.78T>C
(BSCL2)
|
|
|
|
ENST00000526426.1:n.223T>C
(BSCL2)
|
|
|
|
ENST00000531524.5:c.309T>C
(BSCL2)
|
ENSP00000436026.1:p.Phe103=
|
|
|
ENST00000532115.5:n.145-247T>C
(BSCL2)
|
|
|
|
NM_001122955.3:c.708T>C
(BSCL2)
|
NP_001116427.1:p.Phe236=
|
|
|
NM_001130702.2:c.516T>C
(BSCL2)
|
NP_001124174.2:p.Phe172=
|
|
|
NM_032667.6:c.516T>C
(BSCL2)
|
NP_116056.3:p.Phe172=
|
|
|
NR_037946.1:n.3228T>C
(HNRNPUL2-BSCL2)
|
|
|
|
NR_037948.1:n.1310T>C
(BSCL2)
|
|
|
|
NR_037949.1:n.1310T>C
(BSCL2)
|
|
|
|
NM_001122955.4:c.708T>C
(BSCL2)
MANE Select
|
NP_001116427.1:p.Phe236=
|
|
|
NM_001386027.1:c.708T>C
(BSCL2)
|
NP_001372956.1:p.Phe236=
|
|
|
NM_001386028.1:c.708T>C
(BSCL2)
|
NP_001372957.1:p.Phe236=
|
|
