|
ENST00000377315.6:c.1493G>T
(CACNB2)
|
ENSP00000366532.4:p.Ser498Ile
|
|
|
ENST00000377319.9:c.1358G>T
(CACNB2)
|
ENSP00000366536.3:p.Ser453Ile
|
|
|
ENST00000645287.2:c.1481G>T
(CACNB2)
|
ENSP00000496203.1:p.Ser494Ile
|
|
|
ENST00000282343.13:c.1553G>T
(CACNB2)
|
ENSP00000282343.8:p.Ser518Ile
|
|
|
ENST00000324631.13:c.1637G>T
(CACNB2)
MANE Select
|
ENSP00000320025.8:p.Ser546Ile
|
|
|
ENST00000377315.5:c.1493G>T
(CACNB2)
|
ENSP00000366532.4:p.Ser498Ile
|
|
|
ENST00000377319.8:c.1358G>T
(CACNB2)
|
ENSP00000366536.3:p.Ser453Ile
|
|
|
ENST00000377329.10:c.1475G>T
(CACNB2)
MANE Plus Clinical
|
ENSP00000366546.4:p.Ser492Ile
|
|
|
ENST00000377331.8:c.1262G>T
(CACNB2)
|
ENSP00000366548.4:p.Ser421Ile
|
|
|
ENST00000643096.2:c.1439G>T
(CACNB2)
|
ENSP00000494209.2:p.Ser480Ile
|
|
|
ENST00000645287.1:c.1481G>T
(CACNB2)
|
ENSP00000496203.1:p.Ser494Ile
|
|
|
ENST00000647168.2:c.*778G>T
(CACNB2)
|
ENSP00000495854.2:n.*778G>T
|
|
|
ENST00000650685.1:c.1379G>T
(CACNB2)
|
ENSP00000498460.1:p.Ser460Ile
|
|
|
ENST00000651330.1:c.*911G>T
(CACNB2)
|
ENSP00000498457.1:n.*911G>T
|
|
|
ENST00000651468.1:c.1194G>T
(CACNB2)
|
ENSP00000498352.1:n.1194G>T
|
|
|
ENST00000651928.1:c.*876G>T
(CACNB2)
|
ENSP00000499177.1:n.*876G>T
|
|
|
ENST00000652391.1:c.1457G>T
(CACNB2)
|
ENSP00000498938.1:p.Ser486Ile
|
|
|
ENST00000652478.1:c.*737G>T
(CACNB2)
|
ENSP00000498812.1:n.*737G>T
|
|
|
ENST00000282343.12:c.1553G>T
(CACNB2)
|
ENSP00000282343.8:p.Ser518Ile
|
|
|
ENST00000324631.11:c.1637G>T
(CACNB2)
|
ENSP00000320025.7:p.Ser546Ile
|
|
|
ENST00000352115.10:c.1565G>T
(CACNB2)
|
ENSP00000344474.6:p.Ser522Ile
|
|
|
ENST00000377315.4:c.1493G>T
(CACNB2)
|
ENSP00000366532.4:p.Ser498Ile
|
|
|
ENST00000377319.7:c.1358G>T
(CACNB2)
|
ENSP00000366536.3:p.Ser453Ile
|
|
|
ENST00000377328.5:c.887G>T
(CACNB2)
|
ENSP00000366545.1:p.Ser296Ile
|
|
|
ENST00000377329.8:c.1475G>T
(CACNB2)
|
ENSP00000366546.4:p.Ser492Ile
|
|
|
ENST00000377331.6:c.1481G>T
(CACNB2)
|
ENSP00000366548.2:p.Ser494Ile
|
|
|
ENST00000396576.6:c.1472G>T
(CACNB2)
|
ENSP00000379821.2:p.Ser491Ile
|
|
|
ENST00000612134.4:c.1341G>T
(CACNB2)
|
ENSP00000480563.1:n.1341G>T
|
|
|
ENST00000612743.1:c.149G>T
(CACNB2)
|
ENSP00000478676.1:p.Ser50Ile
|
|
|
ENST00000615785.4:c.722G>T
(CACNB2)
|
ENSP00000480260.1:p.Ser241Ile
|
|
|
ENST00000617363.4:c.1400G>T
(CACNB2)
|
ENSP00000479756.1:p.Ser467Ile
|
|
|
NM_000724.3:c.1472G>T
(CACNB2)
|
NP_000715.2:p.Ser491Ile
|
|
|
NM_001167945.1:c.1439G>T
(CACNB2)
|
NP_001161417.1:p.Ser480Ile
|
|
|
NM_201570.2:c.1493G>T
(CACNB2)
|
NP_963864.1:p.Ser498Ile
|
|
|
NM_201571.3:c.1553G>T
(CACNB2)
|
NP_963865.2:p.Ser518Ile
|
|
|
NM_201572.3:c.1481G>T
(CACNB2)
|
NP_963866.2:p.Ser494Ile
|
|
|
NM_201590.2:c.1475G>T
(CACNB2)
|
NP_963884.2:p.Ser492Ile
|
|
|
NM_201593.2:c.1523G>T
(CACNB2)
|
NP_963887.2:p.Ser508Ile
|
|
|
NM_201596.2:c.1637G>T
(CACNB2)
|
NP_963890.2:p.Ser546Ile
|
|
|
NM_201597.2:c.1565G>T
(CACNB2)
|
NP_963891.1:p.Ser522Ile
|
|
|
XM_005252588.2:c.1379G>T
(CACNB2)
|
XP_005252645.1:p.Ser460Ile
|
|
|
XM_005252591.2:c.797G>T
(CACNB2)
|
XP_005252648.1:p.Ser266Ile
|
|
|
XM_006717502.2:c.1457G>T
(CACNB2)
|
XP_006717565.1:p.Ser486Ile
|
|
|
XM_011519659.1:c.1403G>T
(CACNB2)
|
XP_011517961.1:p.Ser468Ile
|
|
|
XM_011519660.1:c.1358G>T
(CACNB2)
|
XP_011517962.1:p.Ser453Ile
|
|
|
NM_001330060.1:c.1358G>T
(CACNB2)
|
NP_001316989.1:p.Ser453Ile
|
|
|
XM_005252588.4:c.1379G>T
(CACNB2)
|
XP_005252645.1:p.Ser460Ile
|
|
|
XM_005252591.3:c.797G>T
(CACNB2)
|
XP_005252648.1:p.Ser266Ile
|
|
|
XM_006717502.3:c.1457G>T
(CACNB2)
|
XP_006717565.1:p.Ser486Ile
|
|
|
XM_011519659.2:c.1403G>T
(CACNB2)
|
XP_011517961.1:p.Ser468Ile
|
|
|
XM_017016625.1:c.797G>T
(CACNB2)
|
XP_016872114.1:p.Ser266Ile
|
|
|
XR_001747060.1:n.2423+2691C>A
(NSUN6)
|
|
|
|
XR_001747198.1:n.1762G>T
(CACNB2)
|
|
|
|
NM_000724.4:c.1472G>T
(CACNB2)
|
NP_000715.2:p.Ser491Ile
|
|
|
NM_001167945.2:c.1439G>T
(CACNB2)
|
NP_001161417.1:p.Ser480Ile
|
|
|
NM_001330060.2:c.1358G>T
(CACNB2)
|
NP_001316989.1:p.Ser453Ile
|
|
|
NM_201570.3:c.1493G>T
(CACNB2)
|
NP_963864.1:p.Ser498Ile
|
|
|
NM_201571.4:c.1553G>T
(CACNB2)
|
NP_963865.2:p.Ser518Ile
|
|
|
NM_201572.4:c.1481G>T
(CACNB2)
|
NP_963866.2:p.Ser494Ile
|
|
|
NM_201590.3:c.1475G>T
(CACNB2)
MANE Plus Clinical
|
NP_963884.2:p.Ser492Ile
|
|
|
NM_201593.3:c.1523G>T
(CACNB2)
|
NP_963887.2:p.Ser508Ile
|
|
|
NM_201596.3:c.1637G>T
(CACNB2)
MANE Select
|
NP_963890.2:p.Ser546Ile
|
|
|
NM_201597.3:c.1565G>T
(CACNB2)
|
NP_963891.1:p.Ser522Ile
|
|
