|
ENST00000377315.6:c.1530A>C
(CACNB2)
|
ENSP00000366532.4:p.Glu510Asp
|
|
|
ENST00000377319.9:c.1395A>C
(CACNB2)
|
ENSP00000366536.3:p.Glu465Asp
|
|
|
ENST00000645287.2:c.1518A>C
(CACNB2)
|
ENSP00000496203.1:p.Glu506Asp
|
|
|
ENST00000282343.13:c.1590A>C
(CACNB2)
|
ENSP00000282343.8:p.Glu530Asp
|
|
|
ENST00000324631.13:c.1674A>C
(CACNB2)
MANE Select
|
ENSP00000320025.8:p.Glu558Asp
|
|
|
ENST00000377315.5:c.1530A>C
(CACNB2)
|
ENSP00000366532.4:p.Glu510Asp
|
|
|
ENST00000377319.8:c.1395A>C
(CACNB2)
|
ENSP00000366536.3:p.Glu465Asp
|
|
|
ENST00000377329.10:c.1512A>C
(CACNB2)
MANE Plus Clinical
|
ENSP00000366546.4:p.Glu504Asp
|
|
|
ENST00000377331.8:c.1299A>C
(CACNB2)
|
ENSP00000366548.4:p.Glu433Asp
|
|
|
ENST00000643096.2:c.1476A>C
(CACNB2)
|
ENSP00000494209.2:p.Glu492Asp
|
|
|
ENST00000645287.1:c.1518A>C
(CACNB2)
|
ENSP00000496203.1:p.Glu506Asp
|
|
|
ENST00000647168.2:c.*815A>C
(CACNB2)
|
ENSP00000495854.2:n.*815A>C
|
|
|
ENST00000650685.1:c.1416A>C
(CACNB2)
|
ENSP00000498460.1:p.Glu472Asp
|
|
|
ENST00000651330.1:c.*948A>C
(CACNB2)
|
ENSP00000498457.1:n.*948A>C
|
|
|
ENST00000651468.1:c.1231A>C
(CACNB2)
|
ENSP00000498352.1:n.1231A>C
|
|
|
ENST00000651928.1:c.*913A>C
(CACNB2)
|
ENSP00000499177.1:n.*913A>C
|
|
|
ENST00000652391.1:c.1494A>C
(CACNB2)
|
ENSP00000498938.1:p.Glu498Asp
|
|
|
ENST00000652478.1:c.*774A>C
(CACNB2)
|
ENSP00000498812.1:n.*774A>C
|
|
|
ENST00000282343.12:c.1590A>C
(CACNB2)
|
ENSP00000282343.8:p.Glu530Asp
|
|
|
ENST00000324631.11:c.1674A>C
(CACNB2)
|
ENSP00000320025.7:p.Glu558Asp
|
|
|
ENST00000352115.10:c.1602A>C
(CACNB2)
|
ENSP00000344474.6:p.Glu534Asp
|
|
|
ENST00000377315.4:c.1530A>C
(CACNB2)
|
ENSP00000366532.4:p.Glu510Asp
|
|
|
ENST00000377319.7:c.1395A>C
(CACNB2)
|
ENSP00000366536.3:p.Glu465Asp
|
|
|
ENST00000377328.5:c.924A>C
(CACNB2)
|
ENSP00000366545.1:p.Glu308Asp
|
|
|
ENST00000377329.8:c.1512A>C
(CACNB2)
|
ENSP00000366546.4:p.Glu504Asp
|
|
|
ENST00000377331.6:c.1518A>C
(CACNB2)
|
ENSP00000366548.2:p.Glu506Asp
|
|
|
ENST00000396576.6:c.1509A>C
(CACNB2)
|
ENSP00000379821.2:p.Glu503Asp
|
|
|
ENST00000612134.4:c.1378A>C
(CACNB2)
|
ENSP00000480563.1:n.1378A>C
|
|
|
ENST00000612743.1:c.186A>C
(CACNB2)
|
ENSP00000478676.1:p.Glu62Asp
|
|
|
ENST00000615785.4:c.759A>C
(CACNB2)
|
ENSP00000480260.1:p.Glu253Asp
|
|
|
ENST00000617363.4:c.1437A>C
(CACNB2)
|
ENSP00000479756.1:p.Glu479Asp
|
|
|
NM_000724.3:c.1509A>C
(CACNB2)
|
NP_000715.2:p.Glu503Asp
|
|
|
NM_001167945.1:c.1476A>C
(CACNB2)
|
NP_001161417.1:p.Glu492Asp
|
|
|
NM_201570.2:c.1530A>C
(CACNB2)
|
NP_963864.1:p.Glu510Asp
|
|
|
NM_201571.3:c.1590A>C
(CACNB2)
|
NP_963865.2:p.Glu530Asp
|
|
|
NM_201572.3:c.1518A>C
(CACNB2)
|
NP_963866.2:p.Glu506Asp
|
|
|
NM_201590.2:c.1512A>C
(CACNB2)
|
NP_963884.2:p.Glu504Asp
|
|
|
NM_201593.2:c.1560A>C
(CACNB2)
|
NP_963887.2:p.Glu520Asp
|
|
|
NM_201596.2:c.1674A>C
(CACNB2)
|
NP_963890.2:p.Glu558Asp
|
|
|
NM_201597.2:c.1602A>C
(CACNB2)
|
NP_963891.1:p.Glu534Asp
|
|
|
XM_005252588.2:c.1416A>C
(CACNB2)
|
XP_005252645.1:p.Glu472Asp
|
|
|
XM_005252591.2:c.834A>C
(CACNB2)
|
XP_005252648.1:p.Glu278Asp
|
|
|
XM_006717502.2:c.1494A>C
(CACNB2)
|
XP_006717565.1:p.Glu498Asp
|
|
|
XM_011519659.1:c.1440A>C
(CACNB2)
|
XP_011517961.1:p.Glu480Asp
|
|
|
XM_011519660.1:c.1395A>C
(CACNB2)
|
XP_011517962.1:p.Glu465Asp
|
|
|
NM_001330060.1:c.1395A>C
(CACNB2)
|
NP_001316989.1:p.Glu465Asp
|
|
|
XM_005252588.4:c.1416A>C
(CACNB2)
|
XP_005252645.1:p.Glu472Asp
|
|
|
XM_005252591.3:c.834A>C
(CACNB2)
|
XP_005252648.1:p.Glu278Asp
|
|
|
XM_006717502.3:c.1494A>C
(CACNB2)
|
XP_006717565.1:p.Glu498Asp
|
|
|
XM_011519659.2:c.1440A>C
(CACNB2)
|
XP_011517961.1:p.Glu480Asp
|
|
|
XM_017016625.1:c.834A>C
(CACNB2)
|
XP_016872114.1:p.Glu278Asp
|
|
|
XR_001747060.1:n.2423+2654T>G
(NSUN6)
|
|
|
|
XR_001747198.1:n.1799A>C
(CACNB2)
|
|
|
|
NM_000724.4:c.1509A>C
(CACNB2)
|
NP_000715.2:p.Glu503Asp
|
|
|
NM_001167945.2:c.1476A>C
(CACNB2)
|
NP_001161417.1:p.Glu492Asp
|
|
|
NM_001330060.2:c.1395A>C
(CACNB2)
|
NP_001316989.1:p.Glu465Asp
|
|
|
NM_201570.3:c.1530A>C
(CACNB2)
|
NP_963864.1:p.Glu510Asp
|
|
|
NM_201571.4:c.1590A>C
(CACNB2)
|
NP_963865.2:p.Glu530Asp
|
|
|
NM_201572.4:c.1518A>C
(CACNB2)
|
NP_963866.2:p.Glu506Asp
|
|
|
NM_201590.3:c.1512A>C
(CACNB2)
MANE Plus Clinical
|
NP_963884.2:p.Glu504Asp
|
|
|
NM_201593.3:c.1560A>C
(CACNB2)
|
NP_963887.2:p.Glu520Asp
|
|
|
NM_201596.3:c.1674A>C
(CACNB2)
MANE Select
|
NP_963890.2:p.Glu558Asp
|
|
|
NM_201597.3:c.1602A>C
(CACNB2)
|
NP_963891.1:p.Glu534Asp
|
|
