|
ENST00000377315.6:c.1525_1532del
(CACNB2)
|
ENSP00000366532.4:p.Ser509ProfsTer18
|
|
|
ENST00000377319.9:c.1390_1397del
(CACNB2)
|
ENSP00000366536.3:p.Ser464ProfsTer18
|
|
|
ENST00000645287.2:c.1513_1520del
(CACNB2)
|
ENSP00000496203.1:p.Ser505ProfsTer18
|
|
|
ENST00000282343.13:c.1585_1592del
(CACNB2)
|
ENSP00000282343.8:p.Ser529ProfsTer18
|
|
|
ENST00000324631.13:c.1669_1676del
(CACNB2)
MANE Select
|
ENSP00000320025.8:p.Ser557ProfsTer18
|
|
|
ENST00000377315.5:c.1525_1532del
(CACNB2)
|
ENSP00000366532.4:p.Ser509ProfsTer18
|
|
|
ENST00000377319.8:c.1390_1397del
(CACNB2)
|
ENSP00000366536.3:p.Ser464ProfsTer18
|
|
|
ENST00000377329.10:c.1507_1514del
(CACNB2)
MANE Plus Clinical
|
ENSP00000366546.4:p.Ser503ProfsTer18
|
|
|
ENST00000377331.8:c.1294_1301del
(CACNB2)
|
ENSP00000366548.4:p.Ser432ProfsTer18
|
|
|
ENST00000643096.2:c.1471_1478del
(CACNB2)
|
ENSP00000494209.2:p.Ser491ProfsTer18
|
|
|
ENST00000645287.1:c.1513_1520del
(CACNB2)
|
ENSP00000496203.1:p.Ser505ProfsTer18
|
|
|
ENST00000647168.2:c.*810_*817del
(CACNB2)
|
ENSP00000495854.2:n.*810_*817del
|
|
|
ENST00000650685.1:c.1411_1418del
(CACNB2)
|
ENSP00000498460.1:p.Ser471ProfsTer18
|
|
|
ENST00000651330.1:c.*943_*950del
(CACNB2)
|
ENSP00000498457.1:n.*943_*950del
|
|
|
ENST00000651468.1:c.1226_1233del
(CACNB2)
|
ENSP00000498352.1:n.1226_1233del
|
|
|
ENST00000651928.1:c.*908_*915del
(CACNB2)
|
ENSP00000499177.1:n.*908_*915del
|
|
|
ENST00000652391.1:c.1489_1496del
(CACNB2)
|
ENSP00000498938.1:p.Ser497ProfsTer18
|
|
|
ENST00000652478.1:c.*769_*776del
(CACNB2)
|
ENSP00000498812.1:n.*769_*776del
|
|
|
ENST00000282343.12:c.1585_1592del
(CACNB2)
|
ENSP00000282343.8:p.Ser529ProfsTer18
|
|
|
ENST00000324631.11:c.1669_1676del
(CACNB2)
|
ENSP00000320025.7:p.Ser557ProfsTer18
|
|
|
ENST00000352115.10:c.1597_1604del
(CACNB2)
|
ENSP00000344474.6:p.Ser533ProfsTer18
|
|
|
ENST00000377315.4:c.1525_1532del
(CACNB2)
|
ENSP00000366532.4:p.Ser509ProfsTer18
|
|
|
ENST00000377319.7:c.1390_1397del
(CACNB2)
|
ENSP00000366536.3:p.Ser464ProfsTer18
|
|
|
ENST00000377328.5:c.919_926del
(CACNB2)
|
ENSP00000366545.1:p.Ser307ProfsTer18
|
|
|
ENST00000377329.8:c.1507_1514del
(CACNB2)
|
ENSP00000366546.4:p.Ser503ProfsTer18
|
|
|
ENST00000377331.6:c.1513_1520del
(CACNB2)
|
ENSP00000366548.2:p.Ser505ProfsTer18
|
|
|
ENST00000396576.6:c.1504_1511del
(CACNB2)
|
ENSP00000379821.2:p.Ser502ProfsTer18
|
|
|
ENST00000612134.4:c.1373_1380del
(CACNB2)
|
ENSP00000480563.1:n.1373_1380del
|
|
|
ENST00000612743.1:c.181_188del
(CACNB2)
|
ENSP00000478676.1:p.Ser61ProfsTer18
|
|
|
ENST00000615785.4:c.754_761del
(CACNB2)
|
ENSP00000480260.1:p.Ser252ProfsTer18
|
|
|
ENST00000617363.4:c.1432_1439del
(CACNB2)
|
ENSP00000479756.1:p.Ser478ProfsTer18
|
|
|
NM_000724.3:c.1504_1511del
(CACNB2)
|
NP_000715.2:p.Ser502ProfsTer18
|
|
|
NM_001167945.1:c.1471_1478del
(CACNB2)
|
NP_001161417.1:p.Ser491ProfsTer18
|
|
|
NM_201570.2:c.1525_1532del
(CACNB2)
|
NP_963864.1:p.Ser509ProfsTer18
|
|
|
NM_201571.3:c.1585_1592del
(CACNB2)
|
NP_963865.2:p.Ser529ProfsTer18
|
|
|
NM_201572.3:c.1513_1520del
(CACNB2)
|
NP_963866.2:p.Ser505ProfsTer18
|
|
|
NM_201590.2:c.1507_1514del
(CACNB2)
|
NP_963884.2:p.Ser503ProfsTer18
|
|
|
NM_201593.2:c.1555_1562del
(CACNB2)
|
NP_963887.2:p.Ser519ProfsTer18
|
|
|
NM_201596.2:c.1669_1676del
(CACNB2)
|
NP_963890.2:p.Ser557ProfsTer18
|
|
|
NM_201597.2:c.1597_1604del
(CACNB2)
|
NP_963891.1:p.Ser533ProfsTer18
|
|
|
XM_005252588.2:c.1411_1418del
(CACNB2)
|
XP_005252645.1:p.Ser471ProfsTer18
|
|
|
XM_005252591.2:c.829_836del
(CACNB2)
|
XP_005252648.1:p.Ser277ProfsTer18
|
|
|
XM_006717502.2:c.1489_1496del
(CACNB2)
|
XP_006717565.1:p.Ser497ProfsTer18
|
|
|
XM_011519659.1:c.1435_1442del
(CACNB2)
|
XP_011517961.1:p.Ser479ProfsTer18
|
|
|
XM_011519660.1:c.1390_1397del
(CACNB2)
|
XP_011517962.1:p.Ser464ProfsTer18
|
|
|
NM_001330060.1:c.1390_1397del
(CACNB2)
|
NP_001316989.1:p.Ser464ProfsTer18
|
|
|
XM_005252588.4:c.1411_1418del
(CACNB2)
|
XP_005252645.1:p.Ser471ProfsTer18
|
|
|
XM_005252591.3:c.829_836del
(CACNB2)
|
XP_005252648.1:p.Ser277ProfsTer18
|
|
|
XM_006717502.3:c.1489_1496del
(CACNB2)
|
XP_006717565.1:p.Ser497ProfsTer18
|
|
|
XM_011519659.2:c.1435_1442del
(CACNB2)
|
XP_011517961.1:p.Ser479ProfsTer18
|
|
|
XM_017016625.1:c.829_836del
(CACNB2)
|
XP_016872114.1:p.Ser277ProfsTer18
|
|
|
XR_001747060.1:n.2423+2654_2423+2661del
(NSUN6)
|
|
|
|
XR_001747198.1:n.1794_1801del
(CACNB2)
|
|
|
|
NM_000724.4:c.1504_1511del
(CACNB2)
|
NP_000715.2:p.Ser502ProfsTer18
|
|
|
NM_001167945.2:c.1471_1478del
(CACNB2)
|
NP_001161417.1:p.Ser491ProfsTer18
|
|
|
NM_001330060.2:c.1390_1397del
(CACNB2)
|
NP_001316989.1:p.Ser464ProfsTer18
|
|
|
NM_201570.3:c.1525_1532del
(CACNB2)
|
NP_963864.1:p.Ser509ProfsTer18
|
|
|
NM_201571.4:c.1585_1592del
(CACNB2)
|
NP_963865.2:p.Ser529ProfsTer18
|
|
|
NM_201572.4:c.1513_1520del
(CACNB2)
|
NP_963866.2:p.Ser505ProfsTer18
|
|
|
NM_201590.3:c.1507_1514del
(CACNB2)
MANE Plus Clinical
|
NP_963884.2:p.Ser503ProfsTer18
|
|
|
NM_201593.3:c.1555_1562del
(CACNB2)
|
NP_963887.2:p.Ser519ProfsTer18
|
|
|
NM_201596.3:c.1669_1676del
(CACNB2)
MANE Select
|
NP_963890.2:p.Ser557ProfsTer18
|
|
|
NM_201597.3:c.1597_1604del
(CACNB2)
|
NP_963891.1:p.Ser533ProfsTer18
|
|
