Canonical Allele Identifier: CA376071471
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2777621
ClinVar RCV Id: RCV003621743

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539348C>G , CM000672.2:g.18539348C>G GRCh38
NC_000010.10:g.18828277C>G , CM000672.1:g.18828277C>G GRCh37
NC_000010.9:g.18868283C>G NCBI36
NG_016195.1:g.403672C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1463C>G (CACNB2) ENSP00000366532.4:p.Ala488Gly
ENST00000377319.9:c.1328C>G (CACNB2) ENSP00000366536.3:p.Ala443Gly
ENST00000645287.2:c.1451C>G (CACNB2) ENSP00000496203.1:p.Ala484Gly
ENST00000282343.13:c.1523C>G (CACNB2) ENSP00000282343.8:p.Ala508Gly
ENST00000324631.13:c.1607C>G (CACNB2) MANE Select ENSP00000320025.8:p.Ala536Gly
ENST00000377315.5:c.1463C>G (CACNB2) ENSP00000366532.4:p.Ala488Gly
ENST00000377319.8:c.1328C>G (CACNB2) ENSP00000366536.3:p.Ala443Gly
ENST00000377329.10:c.1445C>G (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ala482Gly
ENST00000377331.8:c.1232C>G (CACNB2) ENSP00000366548.4:p.Ala411Gly
ENST00000643096.2:c.1409C>G (CACNB2) ENSP00000494209.2:p.Ala470Gly
ENST00000645287.1:c.1451C>G (CACNB2) ENSP00000496203.1:p.Ala484Gly
ENST00000647168.2:c.*748C>G (CACNB2) ENSP00000495854.2:n.*748C>G
ENST00000650685.1:c.1349C>G (CACNB2) ENSP00000498460.1:p.Ala450Gly
ENST00000651330.1:c.*881C>G (CACNB2) ENSP00000498457.1:n.*881C>G
ENST00000651468.1:c.1164C>G (CACNB2) ENSP00000498352.1:n.1164C>G
ENST00000651928.1:c.*846C>G (CACNB2) ENSP00000499177.1:n.*846C>G
ENST00000652391.1:c.1427C>G (CACNB2) ENSP00000498938.1:p.Ala476Gly
ENST00000652478.1:c.*707C>G (CACNB2) ENSP00000498812.1:n.*707C>G
ENST00000282343.12:c.1523C>G (CACNB2) ENSP00000282343.8:p.Ala508Gly
ENST00000324631.11:c.1607C>G (CACNB2) ENSP00000320025.7:p.Ala536Gly
ENST00000352115.10:c.1535C>G (CACNB2) ENSP00000344474.6:p.Ala512Gly
ENST00000377315.4:c.1463C>G (CACNB2) ENSP00000366532.4:p.Ala488Gly
ENST00000377319.7:c.1328C>G (CACNB2) ENSP00000366536.3:p.Ala443Gly
ENST00000377328.5:c.857C>G (CACNB2) ENSP00000366545.1:p.Ala286Gly
ENST00000377329.8:c.1445C>G (CACNB2) ENSP00000366546.4:p.Ala482Gly
ENST00000377331.6:c.1451C>G (CACNB2) ENSP00000366548.2:p.Ala484Gly
ENST00000396576.6:c.1442C>G (CACNB2) ENSP00000379821.2:p.Ala481Gly
ENST00000612134.4:c.1311C>G (CACNB2) ENSP00000480563.1:n.1311C>G
ENST00000612743.1:c.119C>G (CACNB2) ENSP00000478676.1:p.Ala40Gly
ENST00000615785.4:c.692C>G (CACNB2) ENSP00000480260.1:p.Ala231Gly
ENST00000617363.4:c.1370C>G (CACNB2) ENSP00000479756.1:p.Ala457Gly
NM_000724.3:c.1442C>G (CACNB2) NP_000715.2:p.Ala481Gly
NM_001167945.1:c.1409C>G (CACNB2) NP_001161417.1:p.Ala470Gly
NM_201570.2:c.1463C>G (CACNB2) NP_963864.1:p.Ala488Gly
NM_201571.3:c.1523C>G (CACNB2) NP_963865.2:p.Ala508Gly
NM_201572.3:c.1451C>G (CACNB2) NP_963866.2:p.Ala484Gly
NM_201590.2:c.1445C>G (CACNB2) NP_963884.2:p.Ala482Gly
NM_201593.2:c.1493C>G (CACNB2) NP_963887.2:p.Ala498Gly
NM_201596.2:c.1607C>G (CACNB2) NP_963890.2:p.Ala536Gly
NM_201597.2:c.1535C>G (CACNB2) NP_963891.1:p.Ala512Gly
XM_005252588.2:c.1349C>G (CACNB2) XP_005252645.1:p.Ala450Gly
XM_005252591.2:c.767C>G (CACNB2) XP_005252648.1:p.Ala256Gly
XM_006717502.2:c.1427C>G (CACNB2) XP_006717565.1:p.Ala476Gly
XM_011519659.1:c.1373C>G (CACNB2) XP_011517961.1:p.Ala458Gly
XM_011519660.1:c.1328C>G (CACNB2) XP_011517962.1:p.Ala443Gly
NM_001330060.1:c.1328C>G (CACNB2) NP_001316989.1:p.Ala443Gly
XM_005252588.4:c.1349C>G (CACNB2) XP_005252645.1:p.Ala450Gly
XM_005252591.3:c.767C>G (CACNB2) XP_005252648.1:p.Ala256Gly
XM_006717502.3:c.1427C>G (CACNB2) XP_006717565.1:p.Ala476Gly
XM_011519659.2:c.1373C>G (CACNB2) XP_011517961.1:p.Ala458Gly
XM_017016625.1:c.767C>G (CACNB2) XP_016872114.1:p.Ala256Gly
XR_001747060.1:n.2423+2721G>C (NSUN6)
XR_001747198.1:n.1732C>G (CACNB2)
NM_000724.4:c.1442C>G (CACNB2) NP_000715.2:p.Ala481Gly
NM_001167945.2:c.1409C>G (CACNB2) NP_001161417.1:p.Ala470Gly
NM_001330060.2:c.1328C>G (CACNB2) NP_001316989.1:p.Ala443Gly
NM_201570.3:c.1463C>G (CACNB2) NP_963864.1:p.Ala488Gly
NM_201571.4:c.1523C>G (CACNB2) NP_963865.2:p.Ala508Gly
NM_201572.4:c.1451C>G (CACNB2) NP_963866.2:p.Ala484Gly
NM_201590.3:c.1445C>G (CACNB2) MANE Plus Clinical NP_963884.2:p.Ala482Gly
NM_201593.3:c.1493C>G (CACNB2) NP_963887.2:p.Ala498Gly
NM_201596.3:c.1607C>G (CACNB2) MANE Select NP_963890.2:p.Ala536Gly
NM_201597.3:c.1535C>G (CACNB2) NP_963891.1:p.Ala512Gly