|
ENST00000377315.6:c.1754G>T
(CACNB2)
|
ENSP00000366532.4:p.Arg585Leu
|
|
|
ENST00000377319.9:c.1619G>T
(CACNB2)
|
ENSP00000366536.3:p.Arg540Leu
|
|
|
ENST00000645287.2:c.1742G>T
(CACNB2)
|
ENSP00000496203.1:p.Arg581Leu
|
|
|
ENST00000282343.13:c.1814G>T
(CACNB2)
|
ENSP00000282343.8:p.Arg605Leu
|
|
|
ENST00000324631.13:c.1898G>T
(CACNB2)
MANE Select
|
ENSP00000320025.8:p.Arg633Leu
|
|
|
ENST00000377315.5:c.1754G>T
(CACNB2)
|
ENSP00000366532.4:p.Arg585Leu
|
|
|
ENST00000377319.8:c.1619G>T
(CACNB2)
|
ENSP00000366536.3:p.Arg540Leu
|
|
|
ENST00000377329.10:c.1736G>T
(CACNB2)
MANE Plus Clinical
|
ENSP00000366546.4:p.Arg579Leu
|
|
|
ENST00000377331.8:c.1523G>T
(CACNB2)
|
ENSP00000366548.4:p.Arg508Leu
|
|
|
ENST00000643096.2:c.1700G>T
(CACNB2)
|
ENSP00000494209.2:p.Arg567Leu
|
|
|
ENST00000645287.1:c.1742G>T
(CACNB2)
|
ENSP00000496203.1:p.Arg581Leu
|
|
|
ENST00000647168.2:c.*1039G>T
(CACNB2)
|
ENSP00000495854.2:n.*1039G>T
|
|
|
ENST00000650685.1:c.1640G>T
(CACNB2)
|
ENSP00000498460.1:p.Arg547Leu
|
|
|
ENST00000651330.1:c.*1172G>T
(CACNB2)
|
ENSP00000498457.1:n.*1172G>T
|
|
|
ENST00000651468.1:c.1455G>T
(CACNB2)
|
ENSP00000498352.1:n.1455G>T
|
|
|
ENST00000651928.1:c.*1137G>T
(CACNB2)
|
ENSP00000499177.1:n.*1137G>T
|
|
|
ENST00000652391.1:c.1718G>T
(CACNB2)
|
ENSP00000498938.1:p.Arg573Leu
|
|
|
ENST00000652478.1:c.*998G>T
(CACNB2)
|
ENSP00000498812.1:n.*998G>T
|
|
|
ENST00000282343.12:c.1814G>T
(CACNB2)
|
ENSP00000282343.8:p.Arg605Leu
|
|
|
ENST00000324631.11:c.1898G>T
(CACNB2)
|
ENSP00000320025.7:p.Arg633Leu
|
|
|
ENST00000352115.10:c.1826G>T
(CACNB2)
|
ENSP00000344474.6:p.Arg609Leu
|
|
|
ENST00000377315.4:c.1754G>T
(CACNB2)
|
ENSP00000366532.4:p.Arg585Leu
|
|
|
ENST00000377319.7:c.1619G>T
(CACNB2)
|
ENSP00000366536.3:p.Arg540Leu
|
|
|
ENST00000377328.5:c.1148G>T
(CACNB2)
|
ENSP00000366545.1:p.Arg383Leu
|
|
|
ENST00000377329.8:c.1736G>T
(CACNB2)
|
ENSP00000366546.4:p.Arg579Leu
|
|
|
ENST00000377331.6:c.1742G>T
(CACNB2)
|
ENSP00000366548.2:p.Arg581Leu
|
|
|
ENST00000396576.6:c.1733G>T
(CACNB2)
|
ENSP00000379821.2:p.Arg578Leu
|
|
|
ENST00000612134.4:c.1602G>T
(CACNB2)
|
ENSP00000480563.1:n.1602G>T
|
|
|
ENST00000612743.1:c.410G>T
(CACNB2)
|
ENSP00000478676.1:p.Arg137Leu
|
|
|
ENST00000615785.4:c.983G>T
(CACNB2)
|
ENSP00000480260.1:p.Arg328Leu
|
|
|
ENST00000617363.4:c.1661G>T
(CACNB2)
|
ENSP00000479756.1:p.Arg554Leu
|
|
|
NM_000724.3:c.1733G>T
(CACNB2)
|
NP_000715.2:p.Arg578Leu
|
|
|
NM_001167945.1:c.1700G>T
(CACNB2)
|
NP_001161417.1:p.Arg567Leu
|
|
|
NM_201570.2:c.1754G>T
(CACNB2)
|
NP_963864.1:p.Arg585Leu
|
|
|
NM_201571.3:c.1814G>T
(CACNB2)
|
NP_963865.2:p.Arg605Leu
|
|
|
NM_201572.3:c.1742G>T
(CACNB2)
|
NP_963866.2:p.Arg581Leu
|
|
|
NM_201590.2:c.1736G>T
(CACNB2)
|
NP_963884.2:p.Arg579Leu
|
|
|
NM_201593.2:c.1784G>T
(CACNB2)
|
NP_963887.2:p.Arg595Leu
|
|
|
NM_201596.2:c.1898G>T
(CACNB2)
|
NP_963890.2:p.Arg633Leu
|
|
|
NM_201597.2:c.1826G>T
(CACNB2)
|
NP_963891.1:p.Arg609Leu
|
|
|
XM_005252588.2:c.1640G>T
(CACNB2)
|
XP_005252645.1:p.Arg547Leu
|
|
|
XM_005252591.2:c.1058G>T
(CACNB2)
|
XP_005252648.1:p.Arg353Leu
|
|
|
XM_006717502.2:c.1718G>T
(CACNB2)
|
XP_006717565.1:p.Arg573Leu
|
|
|
XM_011519659.1:c.1664G>T
(CACNB2)
|
XP_011517961.1:p.Arg555Leu
|
|
|
XM_011519660.1:c.1619G>T
(CACNB2)
|
XP_011517962.1:p.Arg540Leu
|
|
|
NM_001330060.1:c.1619G>T
(CACNB2)
|
NP_001316989.1:p.Arg540Leu
|
|
|
XM_005252588.4:c.1640G>T
(CACNB2)
|
XP_005252645.1:p.Arg547Leu
|
|
|
XM_005252591.3:c.1058G>T
(CACNB2)
|
XP_005252648.1:p.Arg353Leu
|
|
|
XM_006717502.3:c.1718G>T
(CACNB2)
|
XP_006717565.1:p.Arg573Leu
|
|
|
XM_011519659.2:c.1664G>T
(CACNB2)
|
XP_011517961.1:p.Arg555Leu
|
|
|
XM_017016625.1:c.1058G>T
(CACNB2)
|
XP_016872114.1:p.Arg353Leu
|
|
|
XR_001747060.1:n.2423+2430C>A
(NSUN6)
|
|
|
|
XR_001747198.1:n.2023G>T
(CACNB2)
|
|
|
|
NM_000724.4:c.1733G>T
(CACNB2)
|
NP_000715.2:p.Arg578Leu
|
|
|
NM_001167945.2:c.1700G>T
(CACNB2)
|
NP_001161417.1:p.Arg567Leu
|
|
|
NM_001330060.2:c.1619G>T
(CACNB2)
|
NP_001316989.1:p.Arg540Leu
|
|
|
NM_201570.3:c.1754G>T
(CACNB2)
|
NP_963864.1:p.Arg585Leu
|
|
|
NM_201571.4:c.1814G>T
(CACNB2)
|
NP_963865.2:p.Arg605Leu
|
|
|
NM_201572.4:c.1742G>T
(CACNB2)
|
NP_963866.2:p.Arg581Leu
|
|
|
NM_201590.3:c.1736G>T
(CACNB2)
MANE Plus Clinical
|
NP_963884.2:p.Arg579Leu
|
|
|
NM_201593.3:c.1784G>T
(CACNB2)
|
NP_963887.2:p.Arg595Leu
|
|
|
NM_201596.3:c.1898G>T
(CACNB2)
MANE Select
|
NP_963890.2:p.Arg633Leu
|
|
|
NM_201597.3:c.1826G>T
(CACNB2)
|
NP_963891.1:p.Arg609Leu
|
|
