Canonical Allele Identifier: CA376072066
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539500G>T , CM000672.2:g.18539500G>T GRCh38
NC_000010.10:g.18828429G>T , CM000672.1:g.18828429G>T GRCh37
NC_000010.9:g.18868435G>T NCBI36
NG_016195.1:g.403824G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1615G>T (CACNB2) ENSP00000366532.4:p.Asp539Tyr
ENST00000377319.9:c.1480G>T (CACNB2) ENSP00000366536.3:p.Asp494Tyr
ENST00000645287.2:c.1603G>T (CACNB2) ENSP00000496203.1:p.Asp535Tyr
ENST00000282343.13:c.1675G>T (CACNB2) ENSP00000282343.8:p.Asp559Tyr
ENST00000324631.13:c.1759G>T (CACNB2) MANE Select ENSP00000320025.8:p.Asp587Tyr
ENST00000377315.5:c.1615G>T (CACNB2) ENSP00000366532.4:p.Asp539Tyr
ENST00000377319.8:c.1480G>T (CACNB2) ENSP00000366536.3:p.Asp494Tyr
ENST00000377329.10:c.1597G>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asp533Tyr
ENST00000377331.8:c.1384G>T (CACNB2) ENSP00000366548.4:p.Asp462Tyr
ENST00000643096.2:c.1561G>T (CACNB2) ENSP00000494209.2:p.Asp521Tyr
ENST00000645287.1:c.1603G>T (CACNB2) ENSP00000496203.1:p.Asp535Tyr
ENST00000647168.2:c.*900G>T (CACNB2) ENSP00000495854.2:n.*900G>T
ENST00000650685.1:c.1501G>T (CACNB2) ENSP00000498460.1:p.Asp501Tyr
ENST00000651330.1:c.*1033G>T (CACNB2) ENSP00000498457.1:n.*1033G>T
ENST00000651468.1:c.1316G>T (CACNB2) ENSP00000498352.1:n.1316G>T
ENST00000651928.1:c.*998G>T (CACNB2) ENSP00000499177.1:n.*998G>T
ENST00000652391.1:c.1579G>T (CACNB2) ENSP00000498938.1:p.Asp527Tyr
ENST00000652478.1:c.*859G>T (CACNB2) ENSP00000498812.1:n.*859G>T
ENST00000282343.12:c.1675G>T (CACNB2) ENSP00000282343.8:p.Asp559Tyr
ENST00000324631.11:c.1759G>T (CACNB2) ENSP00000320025.7:p.Asp587Tyr
ENST00000352115.10:c.1687G>T (CACNB2) ENSP00000344474.6:p.Asp563Tyr
ENST00000377315.4:c.1615G>T (CACNB2) ENSP00000366532.4:p.Asp539Tyr
ENST00000377319.7:c.1480G>T (CACNB2) ENSP00000366536.3:p.Asp494Tyr
ENST00000377328.5:c.1009G>T (CACNB2) ENSP00000366545.1:p.Asp337Tyr
ENST00000377329.8:c.1597G>T (CACNB2) ENSP00000366546.4:p.Asp533Tyr
ENST00000377331.6:c.1603G>T (CACNB2) ENSP00000366548.2:p.Asp535Tyr
ENST00000396576.6:c.1594G>T (CACNB2) ENSP00000379821.2:p.Asp532Tyr
ENST00000612134.4:c.1463G>T (CACNB2) ENSP00000480563.1:n.1463G>T
ENST00000612743.1:c.271G>T (CACNB2) ENSP00000478676.1:p.Asp91Tyr
ENST00000615785.4:c.844G>T (CACNB2) ENSP00000480260.1:p.Asp282Tyr
ENST00000617363.4:c.1522G>T (CACNB2) ENSP00000479756.1:p.Asp508Tyr
NM_000724.3:c.1594G>T (CACNB2) NP_000715.2:p.Asp532Tyr
NM_001167945.1:c.1561G>T (CACNB2) NP_001161417.1:p.Asp521Tyr
NM_201570.2:c.1615G>T (CACNB2) NP_963864.1:p.Asp539Tyr
NM_201571.3:c.1675G>T (CACNB2) NP_963865.2:p.Asp559Tyr
NM_201572.3:c.1603G>T (CACNB2) NP_963866.2:p.Asp535Tyr
NM_201590.2:c.1597G>T (CACNB2) NP_963884.2:p.Asp533Tyr
NM_201593.2:c.1645G>T (CACNB2) NP_963887.2:p.Asp549Tyr
NM_201596.2:c.1759G>T (CACNB2) NP_963890.2:p.Asp587Tyr
NM_201597.2:c.1687G>T (CACNB2) NP_963891.1:p.Asp563Tyr
XM_005252588.2:c.1501G>T (CACNB2) XP_005252645.1:p.Asp501Tyr
XM_005252591.2:c.919G>T (CACNB2) XP_005252648.1:p.Asp307Tyr
XM_006717502.2:c.1579G>T (CACNB2) XP_006717565.1:p.Asp527Tyr
XM_011519659.1:c.1525G>T (CACNB2) XP_011517961.1:p.Asp509Tyr
XM_011519660.1:c.1480G>T (CACNB2) XP_011517962.1:p.Asp494Tyr
NM_001330060.1:c.1480G>T (CACNB2) NP_001316989.1:p.Asp494Tyr
XM_005252588.4:c.1501G>T (CACNB2) XP_005252645.1:p.Asp501Tyr
XM_005252591.3:c.919G>T (CACNB2) XP_005252648.1:p.Asp307Tyr
XM_006717502.3:c.1579G>T (CACNB2) XP_006717565.1:p.Asp527Tyr
XM_011519659.2:c.1525G>T (CACNB2) XP_011517961.1:p.Asp509Tyr
XM_017016625.1:c.919G>T (CACNB2) XP_016872114.1:p.Asp307Tyr
XR_001747060.1:n.2423+2569C>A (NSUN6)
XR_001747198.1:n.1884G>T (CACNB2)
NM_000724.4:c.1594G>T (CACNB2) NP_000715.2:p.Asp532Tyr
NM_001167945.2:c.1561G>T (CACNB2) NP_001161417.1:p.Asp521Tyr
NM_001330060.2:c.1480G>T (CACNB2) NP_001316989.1:p.Asp494Tyr
NM_201570.3:c.1615G>T (CACNB2) NP_963864.1:p.Asp539Tyr
NM_201571.4:c.1675G>T (CACNB2) NP_963865.2:p.Asp559Tyr
NM_201572.4:c.1603G>T (CACNB2) NP_963866.2:p.Asp535Tyr
NM_201590.3:c.1597G>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Asp533Tyr
NM_201593.3:c.1645G>T (CACNB2) NP_963887.2:p.Asp549Tyr
NM_201596.3:c.1759G>T (CACNB2) MANE Select NP_963890.2:p.Asp587Tyr
NM_201597.3:c.1687G>T (CACNB2) NP_963891.1:p.Asp563Tyr