Canonical Allele Identifier: CA2608435595
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539356_18539365dup , CM000672.2:g.18539356_18539365dup GRCh38
NC_000010.10:g.18828285_18828294dup , CM000672.1:g.18828285_18828294dup GRCh37
NC_000010.9:g.18868291_18868300dup NCBI36
NG_016195.1:g.403680_403689dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1471_1480dup (CACNB2) ENSP00000366532.4:p.Arg494ProfsTer18
ENST00000377319.9:c.1336_1345dup (CACNB2) ENSP00000366536.3:p.Arg449ProfsTer18
ENST00000645287.2:c.1459_1468dup (CACNB2) ENSP00000496203.1:p.Arg490ProfsTer18
ENST00000282343.13:c.1531_1540dup (CACNB2) ENSP00000282343.8:p.Arg514ProfsTer18
ENST00000324631.13:c.1615_1624dup (CACNB2) MANE Select ENSP00000320025.8:p.Arg542ProfsTer18
ENST00000377315.5:c.1471_1480dup (CACNB2) ENSP00000366532.4:p.Arg494ProfsTer18
ENST00000377319.8:c.1336_1345dup (CACNB2) ENSP00000366536.3:p.Arg449ProfsTer18
ENST00000377329.10:c.1453_1462dup (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Arg488ProfsTer18
ENST00000377331.8:c.1240_1249dup (CACNB2) ENSP00000366548.4:p.Arg417ProfsTer18
ENST00000643096.2:c.1417_1426dup (CACNB2) ENSP00000494209.2:p.Arg476ProfsTer18
ENST00000645287.1:c.1459_1468dup (CACNB2) ENSP00000496203.1:p.Arg490ProfsTer18
ENST00000647168.2:c.*756_*765dup (CACNB2) ENSP00000495854.2:n.*756_*765dup
ENST00000650685.1:c.1357_1366dup (CACNB2) ENSP00000498460.1:p.Arg456ProfsTer18
ENST00000651330.1:c.*889_*898dup (CACNB2) ENSP00000498457.1:n.*889_*898dup
ENST00000651468.1:c.1172_1181dup (CACNB2) ENSP00000498352.1:n.1172_1181dup
ENST00000651928.1:c.*854_*863dup (CACNB2) ENSP00000499177.1:n.*854_*863dup
ENST00000652391.1:c.1435_1444dup (CACNB2) ENSP00000498938.1:p.Arg482ProfsTer18
ENST00000652478.1:c.*715_*724dup (CACNB2) ENSP00000498812.1:n.*715_*724dup
ENST00000282343.12:c.1531_1540dup (CACNB2) ENSP00000282343.8:p.Arg514ProfsTer18
ENST00000324631.11:c.1615_1624dup (CACNB2) ENSP00000320025.7:p.Arg542ProfsTer18
ENST00000352115.10:c.1543_1552dup (CACNB2) ENSP00000344474.6:p.Arg518ProfsTer18
ENST00000377315.4:c.1471_1480dup (CACNB2) ENSP00000366532.4:p.Arg494ProfsTer18
ENST00000377319.7:c.1336_1345dup (CACNB2) ENSP00000366536.3:p.Arg449ProfsTer18
ENST00000377328.5:c.865_874dup (CACNB2) ENSP00000366545.1:p.Arg292ProfsTer18
ENST00000377329.8:c.1453_1462dup (CACNB2) ENSP00000366546.4:p.Arg488ProfsTer18
ENST00000377331.6:c.1459_1468dup (CACNB2) ENSP00000366548.2:p.Arg490ProfsTer18
ENST00000396576.6:c.1450_1459dup (CACNB2) ENSP00000379821.2:p.Arg487ProfsTer18
ENST00000612134.4:c.1319_1328dup (CACNB2) ENSP00000480563.1:n.1319_1328dup
ENST00000612743.1:c.127_136dup (CACNB2) ENSP00000478676.1:p.Arg46ProfsTer18
ENST00000615785.4:c.700_709dup (CACNB2) ENSP00000480260.1:p.Arg237ProfsTer18
ENST00000617363.4:c.1378_1387dup (CACNB2) ENSP00000479756.1:p.Arg463ProfsTer18
NM_000724.3:c.1450_1459dup (CACNB2) NP_000715.2:p.Arg487ProfsTer18
NM_001167945.1:c.1417_1426dup (CACNB2) NP_001161417.1:p.Arg476ProfsTer18
NM_201570.2:c.1471_1480dup (CACNB2) NP_963864.1:p.Arg494ProfsTer18
NM_201571.3:c.1531_1540dup (CACNB2) NP_963865.2:p.Arg514ProfsTer18
NM_201572.3:c.1459_1468dup (CACNB2) NP_963866.2:p.Arg490ProfsTer18
NM_201590.2:c.1453_1462dup (CACNB2) NP_963884.2:p.Arg488ProfsTer18
NM_201593.2:c.1501_1510dup (CACNB2) NP_963887.2:p.Arg504ProfsTer18
NM_201596.2:c.1615_1624dup (CACNB2) NP_963890.2:p.Arg542ProfsTer18
NM_201597.2:c.1543_1552dup (CACNB2) NP_963891.1:p.Arg518ProfsTer18
XM_005252588.2:c.1357_1366dup (CACNB2) XP_005252645.1:p.Arg456ProfsTer18
XM_005252591.2:c.775_784dup (CACNB2) XP_005252648.1:p.Arg262ProfsTer18
XM_006717502.2:c.1435_1444dup (CACNB2) XP_006717565.1:p.Arg482ProfsTer18
XM_011519659.1:c.1381_1390dup (CACNB2) XP_011517961.1:p.Arg464ProfsTer18
XM_011519660.1:c.1336_1345dup (CACNB2) XP_011517962.1:p.Arg449ProfsTer18
NM_001330060.1:c.1336_1345dup (CACNB2) NP_001316989.1:p.Arg449ProfsTer18
XM_005252588.4:c.1357_1366dup (CACNB2) XP_005252645.1:p.Arg456ProfsTer18
XM_005252591.3:c.775_784dup (CACNB2) XP_005252648.1:p.Arg262ProfsTer18
XM_006717502.3:c.1435_1444dup (CACNB2) XP_006717565.1:p.Arg482ProfsTer18
XM_011519659.2:c.1381_1390dup (CACNB2) XP_011517961.1:p.Arg464ProfsTer18
XM_017016625.1:c.775_784dup (CACNB2) XP_016872114.1:p.Arg262ProfsTer18
XR_001747060.1:n.2423+2705_2423+2714dup (NSUN6)
XR_001747198.1:n.1740_1749dup (CACNB2)
NM_000724.4:c.1450_1459dup (CACNB2) NP_000715.2:p.Arg487ProfsTer18
NM_001167945.2:c.1417_1426dup (CACNB2) NP_001161417.1:p.Arg476ProfsTer18
NM_001330060.2:c.1336_1345dup (CACNB2) NP_001316989.1:p.Arg449ProfsTer18
NM_201570.3:c.1471_1480dup (CACNB2) NP_963864.1:p.Arg494ProfsTer18
NM_201571.4:c.1531_1540dup (CACNB2) NP_963865.2:p.Arg514ProfsTer18
NM_201572.4:c.1459_1468dup (CACNB2) NP_963866.2:p.Arg490ProfsTer18
NM_201590.3:c.1453_1462dup (CACNB2) MANE Plus Clinical NP_963884.2:p.Arg488ProfsTer18
NM_201593.3:c.1501_1510dup (CACNB2) NP_963887.2:p.Arg504ProfsTer18
NM_201596.3:c.1615_1624dup (CACNB2) MANE Select NP_963890.2:p.Arg542ProfsTer18
NM_201597.3:c.1543_1552dup (CACNB2) NP_963891.1:p.Arg518ProfsTer18