Canonical Allele Identifier: CA376071998
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539488G>A , CM000672.2:g.18539488G>A GRCh38
NC_000010.10:g.18828417G>A , CM000672.1:g.18828417G>A GRCh37
NC_000010.9:g.18868423G>A NCBI36
NG_016195.1:g.403812G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1603G>A (CACNB2) ENSP00000366532.4:p.Ala535Thr
ENST00000377319.9:c.1468G>A (CACNB2) ENSP00000366536.3:p.Ala490Thr
ENST00000645287.2:c.1591G>A (CACNB2) ENSP00000496203.1:p.Ala531Thr
ENST00000282343.13:c.1663G>A (CACNB2) ENSP00000282343.8:p.Ala555Thr
ENST00000324631.13:c.1747G>A (CACNB2) MANE Select ENSP00000320025.8:p.Ala583Thr
ENST00000377315.5:c.1603G>A (CACNB2) ENSP00000366532.4:p.Ala535Thr
ENST00000377319.8:c.1468G>A (CACNB2) ENSP00000366536.3:p.Ala490Thr
ENST00000377329.10:c.1585G>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ala529Thr
ENST00000377331.8:c.1372G>A (CACNB2) ENSP00000366548.4:p.Ala458Thr
ENST00000643096.2:c.1549G>A (CACNB2) ENSP00000494209.2:p.Ala517Thr
ENST00000645287.1:c.1591G>A (CACNB2) ENSP00000496203.1:p.Ala531Thr
ENST00000647168.2:c.*888G>A (CACNB2) ENSP00000495854.2:n.*888G>A
ENST00000650685.1:c.1489G>A (CACNB2) ENSP00000498460.1:p.Ala497Thr
ENST00000651330.1:c.*1021G>A (CACNB2) ENSP00000498457.1:n.*1021G>A
ENST00000651468.1:c.1304G>A (CACNB2) ENSP00000498352.1:n.1304G>A
ENST00000651928.1:c.*986G>A (CACNB2) ENSP00000499177.1:n.*986G>A
ENST00000652391.1:c.1567G>A (CACNB2) ENSP00000498938.1:p.Ala523Thr
ENST00000652478.1:c.*847G>A (CACNB2) ENSP00000498812.1:n.*847G>A
ENST00000282343.12:c.1663G>A (CACNB2) ENSP00000282343.8:p.Ala555Thr
ENST00000324631.11:c.1747G>A (CACNB2) ENSP00000320025.7:p.Ala583Thr
ENST00000352115.10:c.1675G>A (CACNB2) ENSP00000344474.6:p.Ala559Thr
ENST00000377315.4:c.1603G>A (CACNB2) ENSP00000366532.4:p.Ala535Thr
ENST00000377319.7:c.1468G>A (CACNB2) ENSP00000366536.3:p.Ala490Thr
ENST00000377328.5:c.997G>A (CACNB2) ENSP00000366545.1:p.Ala333Thr
ENST00000377329.8:c.1585G>A (CACNB2) ENSP00000366546.4:p.Ala529Thr
ENST00000377331.6:c.1591G>A (CACNB2) ENSP00000366548.2:p.Ala531Thr
ENST00000396576.6:c.1582G>A (CACNB2) ENSP00000379821.2:p.Ala528Thr
ENST00000612134.4:c.1451G>A (CACNB2) ENSP00000480563.1:n.1451G>A
ENST00000612743.1:c.259G>A (CACNB2) ENSP00000478676.1:p.Ala87Thr
ENST00000615785.4:c.832G>A (CACNB2) ENSP00000480260.1:p.Ala278Thr
ENST00000617363.4:c.1510G>A (CACNB2) ENSP00000479756.1:p.Ala504Thr
NM_000724.3:c.1582G>A (CACNB2) NP_000715.2:p.Ala528Thr
NM_001167945.1:c.1549G>A (CACNB2) NP_001161417.1:p.Ala517Thr
NM_201570.2:c.1603G>A (CACNB2) NP_963864.1:p.Ala535Thr
NM_201571.3:c.1663G>A (CACNB2) NP_963865.2:p.Ala555Thr
NM_201572.3:c.1591G>A (CACNB2) NP_963866.2:p.Ala531Thr
NM_201590.2:c.1585G>A (CACNB2) NP_963884.2:p.Ala529Thr
NM_201593.2:c.1633G>A (CACNB2) NP_963887.2:p.Ala545Thr
NM_201596.2:c.1747G>A (CACNB2) NP_963890.2:p.Ala583Thr
NM_201597.2:c.1675G>A (CACNB2) NP_963891.1:p.Ala559Thr
XM_005252588.2:c.1489G>A (CACNB2) XP_005252645.1:p.Ala497Thr
XM_005252591.2:c.907G>A (CACNB2) XP_005252648.1:p.Ala303Thr
XM_006717502.2:c.1567G>A (CACNB2) XP_006717565.1:p.Ala523Thr
XM_011519659.1:c.1513G>A (CACNB2) XP_011517961.1:p.Ala505Thr
XM_011519660.1:c.1468G>A (CACNB2) XP_011517962.1:p.Ala490Thr
NM_001330060.1:c.1468G>A (CACNB2) NP_001316989.1:p.Ala490Thr
XM_005252588.4:c.1489G>A (CACNB2) XP_005252645.1:p.Ala497Thr
XM_005252591.3:c.907G>A (CACNB2) XP_005252648.1:p.Ala303Thr
XM_006717502.3:c.1567G>A (CACNB2) XP_006717565.1:p.Ala523Thr
XM_011519659.2:c.1513G>A (CACNB2) XP_011517961.1:p.Ala505Thr
XM_017016625.1:c.907G>A (CACNB2) XP_016872114.1:p.Ala303Thr
XR_001747060.1:n.2423+2581C>T (NSUN6)
XR_001747198.1:n.1872G>A (CACNB2)
NM_000724.4:c.1582G>A (CACNB2) NP_000715.2:p.Ala528Thr
NM_001167945.2:c.1549G>A (CACNB2) NP_001161417.1:p.Ala517Thr
NM_001330060.2:c.1468G>A (CACNB2) NP_001316989.1:p.Ala490Thr
NM_201570.3:c.1603G>A (CACNB2) NP_963864.1:p.Ala535Thr
NM_201571.4:c.1663G>A (CACNB2) NP_963865.2:p.Ala555Thr
NM_201572.4:c.1591G>A (CACNB2) NP_963866.2:p.Ala531Thr
NM_201590.3:c.1585G>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Ala529Thr
NM_201593.3:c.1633G>A (CACNB2) NP_963887.2:p.Ala545Thr
NM_201596.3:c.1747G>A (CACNB2) MANE Select NP_963890.2:p.Ala583Thr
NM_201597.3:c.1675G>A (CACNB2) NP_963891.1:p.Ala559Thr