Canonical Allele Identifier: CA5430194
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

dbSNP Id: rs746094116

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539628_18539663dup , CM000672.2:g.18539628_18539663dup GRCh38
NC_000010.10:g.18828557_18828592dup , CM000672.1:g.18828557_18828592dup GRCh37
NC_000010.9:g.18868563_18868598dup NCBI36
NG_016195.1:g.403952_403987dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1743_1778dup (CACNB2) ENSP00000366532.4:p.Val593_Ile594insSerLysAspArgTyrCysGluLysA...
ENST00000377319.9:c.1608_1643dup (CACNB2) ENSP00000366536.3:p.Val548_Ile549insSerLysAspArgTyrCysGluLysA...
ENST00000645287.2:c.1731_1766dup (CACNB2) ENSP00000496203.1:p.Val589_Ile590insSerLysAspArgTyrCysGluLysA...
ENST00000282343.13:c.1803_1838dup (CACNB2) ENSP00000282343.8:p.Val613_Ile614insSerLysAspArgTyrCysGluLysA...
ENST00000324631.13:c.1887_1922dup (CACNB2) MANE Select ENSP00000320025.8:p.Val641_Ile642insSerLysAspArgTyrCysGluLysA...
ENST00000377315.5:c.1743_1778dup (CACNB2) ENSP00000366532.4:p.Val593_Ile594insSerLysAspArgTyrCysGluLysA...
ENST00000377319.8:c.1608_1643dup (CACNB2) ENSP00000366536.3:p.Val548_Ile549insSerLysAspArgTyrCysGluLysA...
ENST00000377329.10:c.1725_1760dup (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Val587_Ile588insSerLysAspArgTyrCysGluLysA...
ENST00000377331.8:c.1512_1547dup (CACNB2) ENSP00000366548.4:p.Val516_Ile517insSerLysAspArgTyrCysGluLysA...
ENST00000643096.2:c.1689_1724dup (CACNB2) ENSP00000494209.2:p.Val575_Ile576insSerLysAspArgTyrCysGluLysA...
ENST00000645287.1:c.1731_1766dup (CACNB2) ENSP00000496203.1:p.Val589_Ile590insSerLysAspArgTyrCysGluLysA...
ENST00000647168.2:c.*1028_*1063dup (CACNB2) ENSP00000495854.2:n.*1028_*1063dup
ENST00000650685.1:c.1629_1664dup (CACNB2) ENSP00000498460.1:p.Val555_Ile556insSerLysAspArgTyrCysGluLysA...
ENST00000651330.1:c.*1161_*1196dup (CACNB2) ENSP00000498457.1:n.*1161_*1196dup
ENST00000651468.1:c.1444_1479dup (CACNB2) ENSP00000498352.1:n.1444_1479dup
ENST00000651928.1:c.*1126_*1161dup (CACNB2) ENSP00000499177.1:n.*1126_*1161dup
ENST00000652391.1:c.1707_1742dup (CACNB2) ENSP00000498938.1:p.Val581_Ile582insSerLysAspArgTyrCysGluLysA...
ENST00000652478.1:c.*987_*1022dup (CACNB2) ENSP00000498812.1:n.*987_*1022dup
ENST00000282343.12:c.1803_1838dup (CACNB2) ENSP00000282343.8:p.Val613_Ile614insSerLysAspArgTyrCysGluLysA...
ENST00000324631.11:c.1887_1922dup (CACNB2) ENSP00000320025.7:p.Val641_Ile642insSerLysAspArgTyrCysGluLysA...
ENST00000352115.10:c.1815_1850dup (CACNB2) ENSP00000344474.6:p.Val617_Ile618insSerLysAspArgTyrCysGluLysA...
ENST00000377315.4:c.1743_1778dup (CACNB2) ENSP00000366532.4:p.Val593_Ile594insSerLysAspArgTyrCysGluLysA...
ENST00000377319.7:c.1608_1643dup (CACNB2) ENSP00000366536.3:p.Val548_Ile549insSerLysAspArgTyrCysGluLysA...
ENST00000377328.5:c.1137_1172dup (CACNB2) ENSP00000366545.1:p.Val391_Ile392insSerLysAspArgTyrCysGluLysA...
ENST00000377329.8:c.1725_1760dup (CACNB2) ENSP00000366546.4:p.Val587_Ile588insSerLysAspArgTyrCysGluLysA...
ENST00000377331.6:c.1731_1766dup (CACNB2) ENSP00000366548.2:p.Val589_Ile590insSerLysAspArgTyrCysGluLysA...
ENST00000396576.6:c.1722_1757dup (CACNB2) ENSP00000379821.2:p.Val586_Ile587insSerLysAspArgTyrCysGluLysA...
ENST00000612134.4:c.1591_1626dup (CACNB2) ENSP00000480563.1:n.1591_1626dup
ENST00000612743.1:c.399_434dup (CACNB2) ENSP00000478676.1:p.Val145_Ile146insSerLysAspArgTyrCysGluLysA...
ENST00000615785.4:c.972_1007dup (CACNB2) ENSP00000480260.1:p.Val336_Ile337insSerLysAspArgTyrCysGluLysA...
ENST00000617363.4:c.1650_1685dup (CACNB2) ENSP00000479756.1:p.Val562_Ile563insSerLysAspArgTyrCysGluLysA...
NM_000724.3:c.1722_1757dup (CACNB2) NP_000715.2:p.Val586_Ile587insSerLysAspArgTyrCysGluLysAspGlyG...
NM_001167945.1:c.1689_1724dup (CACNB2) NP_001161417.1:p.Val575_Ile576insSerLysAspArgTyrCysGluLysAspG...
NM_201570.2:c.1743_1778dup (CACNB2) NP_963864.1:p.Val593_Ile594insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201571.3:c.1803_1838dup (CACNB2) NP_963865.2:p.Val613_Ile614insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201572.3:c.1731_1766dup (CACNB2) NP_963866.2:p.Val589_Ile590insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201590.2:c.1725_1760dup (CACNB2) NP_963884.2:p.Val587_Ile588insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201593.2:c.1773_1808dup (CACNB2) NP_963887.2:p.Val603_Ile604insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201596.2:c.1887_1922dup (CACNB2) NP_963890.2:p.Val641_Ile642insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201597.2:c.1815_1850dup (CACNB2) NP_963891.1:p.Val617_Ile618insSerLysAspArgTyrCysGluLysAspGlyG...
XM_005252588.2:c.1629_1664dup (CACNB2) XP_005252645.1:p.Val555_Ile556insSerLysAspArgTyrCysGluLysAspG...
XM_005252591.2:c.1047_1082dup (CACNB2) XP_005252648.1:p.Val361_Ile362insSerLysAspArgTyrCysGluLysAspG...
XM_006717502.2:c.1707_1742dup (CACNB2) XP_006717565.1:p.Val581_Ile582insSerLysAspArgTyrCysGluLysAspG...
XM_011519659.1:c.1653_1688dup (CACNB2) XP_011517961.1:p.Val563_Ile564insSerLysAspArgTyrCysGluLysAspG...
XM_011519660.1:c.1608_1643dup (CACNB2) XP_011517962.1:p.Val548_Ile549insSerLysAspArgTyrCysGluLysAspG...
NM_001330060.1:c.1608_1643dup (CACNB2) NP_001316989.1:p.Val548_Ile549insSerLysAspArgTyrCysGluLysAspG...
XM_005252588.4:c.1629_1664dup (CACNB2) XP_005252645.1:p.Val555_Ile556insSerLysAspArgTyrCysGluLysAspG...
XM_005252591.3:c.1047_1082dup (CACNB2) XP_005252648.1:p.Val361_Ile362insSerLysAspArgTyrCysGluLysAspG...
XM_006717502.3:c.1707_1742dup (CACNB2) XP_006717565.1:p.Val581_Ile582insSerLysAspArgTyrCysGluLysAspG...
XM_011519659.2:c.1653_1688dup (CACNB2) XP_011517961.1:p.Val563_Ile564insSerLysAspArgTyrCysGluLysAspG...
XM_017016625.1:c.1047_1082dup (CACNB2) XP_016872114.1:p.Val361_Ile362insSerLysAspArgTyrCysGluLysAspG...
XR_001747060.1:n.2423+2406_2423+2441dup (NSUN6)
XR_001747198.1:n.2012_2047dup (CACNB2)
NM_000724.4:c.1722_1757dup (CACNB2) NP_000715.2:p.Val586_Ile587insSerLysAspArgTyrCysGluLysAspGlyG...
NM_001167945.2:c.1689_1724dup (CACNB2) NP_001161417.1:p.Val575_Ile576insSerLysAspArgTyrCysGluLysAspG...
NM_001330060.2:c.1608_1643dup (CACNB2) NP_001316989.1:p.Val548_Ile549insSerLysAspArgTyrCysGluLysAspG...
NM_201570.3:c.1743_1778dup (CACNB2) NP_963864.1:p.Val593_Ile594insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201571.4:c.1803_1838dup (CACNB2) NP_963865.2:p.Val613_Ile614insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201572.4:c.1731_1766dup (CACNB2) NP_963866.2:p.Val589_Ile590insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201590.3:c.1725_1760dup (CACNB2) MANE Plus Clinical NP_963884.2:p.Val587_Ile588insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201593.3:c.1773_1808dup (CACNB2) NP_963887.2:p.Val603_Ile604insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201596.3:c.1887_1922dup (CACNB2) MANE Select NP_963890.2:p.Val641_Ile642insSerLysAspArgTyrCysGluLysAspGlyG...
NM_201597.3:c.1815_1850dup (CACNB2) NP_963891.1:p.Val617_Ile618insSerLysAspArgTyrCysGluLysAspGlyG...