Canonical Allele Identifier: CA376071600
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1773621
ClinVar RCV Id: RCV002397195

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539386C>T , CM000672.2:g.18539386C>T GRCh38
NC_000010.10:g.18828315C>T , CM000672.1:g.18828315C>T GRCh37
NC_000010.9:g.18868321C>T NCBI36
NG_016195.1:g.403710C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1501C>T (CACNB2) ENSP00000366532.4:p.Leu501Phe
ENST00000377319.9:c.1366C>T (CACNB2) ENSP00000366536.3:p.Leu456Phe
ENST00000645287.2:c.1489C>T (CACNB2) ENSP00000496203.1:p.Leu497Phe
ENST00000282343.13:c.1561C>T (CACNB2) ENSP00000282343.8:p.Leu521Phe
ENST00000324631.13:c.1645C>T (CACNB2) MANE Select ENSP00000320025.8:p.Leu549Phe
ENST00000377315.5:c.1501C>T (CACNB2) ENSP00000366532.4:p.Leu501Phe
ENST00000377319.8:c.1366C>T (CACNB2) ENSP00000366536.3:p.Leu456Phe
ENST00000377329.10:c.1483C>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Leu495Phe
ENST00000377331.8:c.1270C>T (CACNB2) ENSP00000366548.4:p.Leu424Phe
ENST00000643096.2:c.1447C>T (CACNB2) ENSP00000494209.2:p.Leu483Phe
ENST00000645287.1:c.1489C>T (CACNB2) ENSP00000496203.1:p.Leu497Phe
ENST00000647168.2:c.*786C>T (CACNB2) ENSP00000495854.2:n.*786C>T
ENST00000650685.1:c.1387C>T (CACNB2) ENSP00000498460.1:p.Leu463Phe
ENST00000651330.1:c.*919C>T (CACNB2) ENSP00000498457.1:n.*919C>T
ENST00000651468.1:c.1202C>T (CACNB2) ENSP00000498352.1:n.1202C>T
ENST00000651928.1:c.*884C>T (CACNB2) ENSP00000499177.1:n.*884C>T
ENST00000652391.1:c.1465C>T (CACNB2) ENSP00000498938.1:p.Leu489Phe
ENST00000652478.1:c.*745C>T (CACNB2) ENSP00000498812.1:n.*745C>T
ENST00000282343.12:c.1561C>T (CACNB2) ENSP00000282343.8:p.Leu521Phe
ENST00000324631.11:c.1645C>T (CACNB2) ENSP00000320025.7:p.Leu549Phe
ENST00000352115.10:c.1573C>T (CACNB2) ENSP00000344474.6:p.Leu525Phe
ENST00000377315.4:c.1501C>T (CACNB2) ENSP00000366532.4:p.Leu501Phe
ENST00000377319.7:c.1366C>T (CACNB2) ENSP00000366536.3:p.Leu456Phe
ENST00000377328.5:c.895C>T (CACNB2) ENSP00000366545.1:p.Leu299Phe
ENST00000377329.8:c.1483C>T (CACNB2) ENSP00000366546.4:p.Leu495Phe
ENST00000377331.6:c.1489C>T (CACNB2) ENSP00000366548.2:p.Leu497Phe
ENST00000396576.6:c.1480C>T (CACNB2) ENSP00000379821.2:p.Leu494Phe
ENST00000612134.4:c.1349C>T (CACNB2) ENSP00000480563.1:n.1349C>T
ENST00000612743.1:c.157C>T (CACNB2) ENSP00000478676.1:p.Leu53Phe
ENST00000615785.4:c.730C>T (CACNB2) ENSP00000480260.1:p.Leu244Phe
ENST00000617363.4:c.1408C>T (CACNB2) ENSP00000479756.1:p.Leu470Phe
NM_000724.3:c.1480C>T (CACNB2) NP_000715.2:p.Leu494Phe
NM_001167945.1:c.1447C>T (CACNB2) NP_001161417.1:p.Leu483Phe
NM_201570.2:c.1501C>T (CACNB2) NP_963864.1:p.Leu501Phe
NM_201571.3:c.1561C>T (CACNB2) NP_963865.2:p.Leu521Phe
NM_201572.3:c.1489C>T (CACNB2) NP_963866.2:p.Leu497Phe
NM_201590.2:c.1483C>T (CACNB2) NP_963884.2:p.Leu495Phe
NM_201593.2:c.1531C>T (CACNB2) NP_963887.2:p.Leu511Phe
NM_201596.2:c.1645C>T (CACNB2) NP_963890.2:p.Leu549Phe
NM_201597.2:c.1573C>T (CACNB2) NP_963891.1:p.Leu525Phe
XM_005252588.2:c.1387C>T (CACNB2) XP_005252645.1:p.Leu463Phe
XM_005252591.2:c.805C>T (CACNB2) XP_005252648.1:p.Leu269Phe
XM_006717502.2:c.1465C>T (CACNB2) XP_006717565.1:p.Leu489Phe
XM_011519659.1:c.1411C>T (CACNB2) XP_011517961.1:p.Leu471Phe
XM_011519660.1:c.1366C>T (CACNB2) XP_011517962.1:p.Leu456Phe
NM_001330060.1:c.1366C>T (CACNB2) NP_001316989.1:p.Leu456Phe
XM_005252588.4:c.1387C>T (CACNB2) XP_005252645.1:p.Leu463Phe
XM_005252591.3:c.805C>T (CACNB2) XP_005252648.1:p.Leu269Phe
XM_006717502.3:c.1465C>T (CACNB2) XP_006717565.1:p.Leu489Phe
XM_011519659.2:c.1411C>T (CACNB2) XP_011517961.1:p.Leu471Phe
XM_017016625.1:c.805C>T (CACNB2) XP_016872114.1:p.Leu269Phe
XR_001747060.1:n.2423+2683G>A (NSUN6)
XR_001747198.1:n.1770C>T (CACNB2)
NM_000724.4:c.1480C>T (CACNB2) NP_000715.2:p.Leu494Phe
NM_001167945.2:c.1447C>T (CACNB2) NP_001161417.1:p.Leu483Phe
NM_001330060.2:c.1366C>T (CACNB2) NP_001316989.1:p.Leu456Phe
NM_201570.3:c.1501C>T (CACNB2) NP_963864.1:p.Leu501Phe
NM_201571.4:c.1561C>T (CACNB2) NP_963865.2:p.Leu521Phe
NM_201572.4:c.1489C>T (CACNB2) NP_963866.2:p.Leu497Phe
NM_201590.3:c.1483C>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Leu495Phe
NM_201593.3:c.1531C>T (CACNB2) NP_963887.2:p.Leu511Phe
NM_201596.3:c.1645C>T (CACNB2) MANE Select NP_963890.2:p.Leu549Phe
NM_201597.3:c.1573C>T (CACNB2) NP_963891.1:p.Leu525Phe