|
ENST00000366600.8:c.*1462A>G
(B3GALNT2)
MANE Select
|
ENSP00000355559.3:n.*1462A>G
|
|
|
ENST00000366601.8:c.1377T>C
(TBCE)
|
ENSP00000355560.4:p.Cys459=
|
|
|
ENST00000406207.5:c.1566T>C
(TBCE)
|
ENSP00000384571.1:p.Cys522=
|
|
|
ENST00000465463.2:n.1517T>C
(TBCE)
|
|
|
|
ENST00000472011.6:n.2290T>C
(TBCE)
|
|
|
|
ENST00000543662.4:c.1719T>C
(TBCE)
|
ENSP00000439170.1:p.Cys573=
|
|
|
ENST00000642339.1:c.*1263T>C
(TBCE)
|
ENSP00000495425.1:n.*1263T>C
|
|
|
ENST00000642431.1:c.2143T>C
|
|
|
|
ENST00000642463.1:c.*1464T>C
(TBCE)
|
ENSP00000495007.1:n.*1464T>C
|
|
|
ENST00000642610.2:c.1566T>C
(TBCE)
MANE Select
|
ENSP00000494796.1:p.Cys522=
|
|
|
ENST00000642764.1:n.2397T>C
(TBCE)
|
|
|
|
ENST00000643125.1:c.*581T>C
(TBCE)
|
ENSP00000494102.1:n.*581T>C
|
|
|
ENST00000643142.1:c.*1057T>C
(TBCE)
|
ENSP00000494755.1:n.*1057T>C
|
|
|
ENST00000643410.1:c.*856T>C
|
ENSP00000495030.1:n.*856T>C
|
|
|
ENST00000643487.1:n.2253T>C
(TBCE)
|
|
|
|
ENST00000643524.1:c.*1151T>C
(TBCE)
|
ENSP00000494026.1:n.*1151T>C
|
|
|
ENST00000643615.1:c.*1412T>C
(TBCE)
|
ENSP00000496103.1:n.*1412T>C
|
|
|
ENST00000643994.1:c.*1566T>C
(TBCE)
|
ENSP00000496322.1:n.*1566T>C
|
|
|
ENST00000644037.1:c.*1776T>C
(TBCE)
|
ENSP00000496408.1:n.*1776T>C
|
|
|
ENST00000644055.1:c.*2191T>C
|
ENSP00000496307.1:n.*2191T>C
|
|
|
ENST00000644126.1:n.3467T>C
(TBCE)
|
|
|
|
ENST00000644217.1:c.1632T>C
(TBCE)
|
ENSP00000494646.1:p.Cys544=
|
|
|
ENST00000644578.1:c.1446T>C
(TBCE)
|
ENSP00000495953.1:p.Cys482=
|
|
|
ENST00000644604.1:c.1566T>C
|
ENSP00000495961.1:p.Cys522=
|
|
|
ENST00000644680.1:c.*2087T>C
|
ENSP00000496173.1:n.*2087T>C
|
|
|
ENST00000644838.1:c.*949T>C
(TBCE)
|
ENSP00000495910.1:n.*949T>C
|
|
|
ENST00000644910.1:c.2173T>C
(TBCE)
|
|
|
|
ENST00000645205.1:c.1566T>C
|
ENSP00000495823.1:p.Cys522=
|
|
|
ENST00000645351.1:c.1566T>C
|
ENSP00000494319.1:p.Cys522=
|
|
|
ENST00000645551.1:c.*1283T>C
(TBCE)
|
ENSP00000495928.1:n.*1283T>C
|
|
|
ENST00000645578.1:c.*1340T>C
|
ENSP00000496495.1:n.*1340T>C
|
|
|
ENST00000645582.1:c.*1396T>C
(TBCE)
|
ENSP00000494980.1:n.*1396T>C
|
|
|
ENST00000645655.1:c.1566T>C
|
ENSP00000495202.1:p.Cys522=
|
|
|
ENST00000645836.1:c.*1340T>C
|
ENSP00000493915.1:n.*1340T>C
|
|
|
ENST00000645964.1:c.*1432T>C
(TBCE)
|
ENSP00000494208.1:n.*1432T>C
|
|
|
ENST00000646104.1:c.*2034T>C
(TBCE)
|
ENSP00000495475.1:n.*2034T>C
|
|
|
ENST00000646186.1:c.*1238T>C
(TBCE)
|
ENSP00000493806.1:n.*1238T>C
|
|
|
ENST00000646286.1:c.*1459T>C
(TBCE)
|
ENSP00000494291.1:n.*1459T>C
|
|
|
ENST00000646463.1:c.*1331T>C
(TBCE)
|
ENSP00000494541.1:n.*1331T>C
|
|
|
ENST00000646528.1:c.*2282T>C
|
ENSP00000496553.1:n.*2282T>C
|
|
|
ENST00000646536.1:c.*860T>C
(TBCE)
|
ENSP00000494801.1:n.*860T>C
|
|
|
ENST00000646624.1:c.1566T>C
|
ENSP00000494575.1:p.Cys522=
|
|
|
ENST00000646661.1:n.346T>C
(TBCE)
|
|
|
|
ENST00000646821.1:c.*856T>C
(TBCE)
|
ENSP00000495257.1:n.*856T>C
|
|
|
ENST00000646848.1:c.*781T>C
(TBCE)
|
ENSP00000495831.1:n.*781T>C
|
|
|
ENST00000647151.1:c.290T>C
(TBCE)
|
ENSP00000495125.1:n.290T>C
|
|
|
ENST00000647186.1:c.1566T>C
|
ENSP00000494775.1:p.Cys522=
|
|
|
ENST00000647233.1:n.2546T>C
(TBCE)
|
|
|
|
ENST00000647322.1:c.1157T>C
(TBCE)
|
|
|
|
ENST00000647418.1:c.*1340T>C
(TBCE)
|
ENSP00000493552.1:n.*1340T>C
|
|
|
ENST00000647428.1:c.1227T>C
|
ENSP00000495630.1:p.Cys409=
|
|
|
ENST00000651186.1:c.1227T>C
(TBCE)
|
ENSP00000498645.1:p.Cys409=
|
|
|
ENST00000675193.1:c.*1905A>G
(B3GALNT2)
|
ENSP00000502069.1:n.*1905A>G
|
|
|
ENST00000366601.7:c.1566T>C
|
ENSP00000355560.3:p.Cys522=
|
|
|
ENST00000406207.4:c.1566T>C
|
ENSP00000384571.1:p.Cys522=
|
|
|
ENST00000472011.5:n.1618T>C
|
|
|
|
ENST00000543662.3:c.1719T>C
|
ENSP00000439170.1:p.Cys573=
|
|
|
NM_001079515.2:c.1566T>C
(TBCE)
|
NP_001072983.1:p.Cys522=
|
|
|
NM_001287801.1:c.1719T>C
(TBCE)
|
NP_001274730.1:p.Cys573=
|
|
|
NM_001287802.1:c.1227T>C
(TBCE)
|
NP_001274731.1:p.Cys409=
|
|
|
NM_003193.4:c.1566T>C
(TBCE)
|
NP_003184.1:p.Cys522=
|
|
|
NM_152490.4:c.*1462A>G
(B3GALNT2)
|
NP_689703.1:n.*1462A>G
|
|
|
XM_006711749.2:c.1469+1496A>G
(B3GALNT2)
|
XP_006711812.1:n.1469+1496A>G
|
|
|
XM_006711749.3:c.1469+1496A>G
(B3GALNT2)
|
XP_006711812.1:n.1469+1496A>G
|
|
|
XM_017000394.1:c.*1462A>G
(B3GALNT2)
|
XP_016855883.1:n.*1462A>G
|
|
|
XM_017000395.1:c.*1641A>G
(B3GALNT2)
|
XP_016855884.1:n.*1641A>G
|
|
|
XR_001736987.1:n.3069A>G
(B3GALNT2)
|
|
|
|
XR_001736989.1:n.2990A>G
(B3GALNT2)
|
|
|
|
XR_001736990.1:n.2952A>G
(B3GALNT2)
|
|
|
|
NM_003193.5:c.1566T>C
(TBCE)
MANE Select
|
NP_003184.1:p.Cys522=
|
|
|
NM_152490.5:c.*1462A>G
(B3GALNT2)
MANE Select
|
NP_689703.1:n.*1462A>G
|
|
|
NM_001079515.3:c.1566T>C
(TBCE)
|
NP_001072983.1:p.Cys522=
|
|
|
NM_001287801.2:c.1719T>C
(TBCE)
|
NP_001274730.1:p.Cys573=
|
|
|
NM_001287802.2:c.1227T>C
(TBCE)
|
NP_001274731.1:p.Cys409=
|
|
