Canonical Allele Identifier: CA376072334
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539543G>C , CM000672.2:g.18539543G>C GRCh38
NC_000010.10:g.18828472G>C , CM000672.1:g.18828472G>C GRCh37
NC_000010.9:g.18868478G>C NCBI36
NG_016195.1:g.403867G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1658G>C (CACNB2) ENSP00000366532.4:p.Arg553Thr
ENST00000377319.9:c.1523G>C (CACNB2) ENSP00000366536.3:p.Arg508Thr
ENST00000645287.2:c.1646G>C (CACNB2) ENSP00000496203.1:p.Arg549Thr
ENST00000282343.13:c.1718G>C (CACNB2) ENSP00000282343.8:p.Arg573Thr
ENST00000324631.13:c.1802G>C (CACNB2) MANE Select ENSP00000320025.8:p.Arg601Thr
ENST00000377315.5:c.1658G>C (CACNB2) ENSP00000366532.4:p.Arg553Thr
ENST00000377319.8:c.1523G>C (CACNB2) ENSP00000366536.3:p.Arg508Thr
ENST00000377329.10:c.1640G>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Arg547Thr
ENST00000377331.8:c.1427G>C (CACNB2) ENSP00000366548.4:p.Arg476Thr
ENST00000643096.2:c.1604G>C (CACNB2) ENSP00000494209.2:p.Arg535Thr
ENST00000645287.1:c.1646G>C (CACNB2) ENSP00000496203.1:p.Arg549Thr
ENST00000647168.2:c.*943G>C (CACNB2) ENSP00000495854.2:n.*943G>C
ENST00000650685.1:c.1544G>C (CACNB2) ENSP00000498460.1:p.Arg515Thr
ENST00000651330.1:c.*1076G>C (CACNB2) ENSP00000498457.1:n.*1076G>C
ENST00000651468.1:c.1359G>C (CACNB2) ENSP00000498352.1:n.1359G>C
ENST00000651928.1:c.*1041G>C (CACNB2) ENSP00000499177.1:n.*1041G>C
ENST00000652391.1:c.1622G>C (CACNB2) ENSP00000498938.1:p.Arg541Thr
ENST00000652478.1:c.*902G>C (CACNB2) ENSP00000498812.1:n.*902G>C
ENST00000282343.12:c.1718G>C (CACNB2) ENSP00000282343.8:p.Arg573Thr
ENST00000324631.11:c.1802G>C (CACNB2) ENSP00000320025.7:p.Arg601Thr
ENST00000352115.10:c.1730G>C (CACNB2) ENSP00000344474.6:p.Arg577Thr
ENST00000377315.4:c.1658G>C (CACNB2) ENSP00000366532.4:p.Arg553Thr
ENST00000377319.7:c.1523G>C (CACNB2) ENSP00000366536.3:p.Arg508Thr
ENST00000377328.5:c.1052G>C (CACNB2) ENSP00000366545.1:p.Arg351Thr
ENST00000377329.8:c.1640G>C (CACNB2) ENSP00000366546.4:p.Arg547Thr
ENST00000377331.6:c.1646G>C (CACNB2) ENSP00000366548.2:p.Arg549Thr
ENST00000396576.6:c.1637G>C (CACNB2) ENSP00000379821.2:p.Arg546Thr
ENST00000612134.4:c.1506G>C (CACNB2) ENSP00000480563.1:n.1506G>C
ENST00000612743.1:c.314G>C (CACNB2) ENSP00000478676.1:p.Arg105Thr
ENST00000615785.4:c.887G>C (CACNB2) ENSP00000480260.1:p.Arg296Thr
ENST00000617363.4:c.1565G>C (CACNB2) ENSP00000479756.1:p.Arg522Thr
NM_000724.3:c.1637G>C (CACNB2) NP_000715.2:p.Arg546Thr
NM_001167945.1:c.1604G>C (CACNB2) NP_001161417.1:p.Arg535Thr
NM_201570.2:c.1658G>C (CACNB2) NP_963864.1:p.Arg553Thr
NM_201571.3:c.1718G>C (CACNB2) NP_963865.2:p.Arg573Thr
NM_201572.3:c.1646G>C (CACNB2) NP_963866.2:p.Arg549Thr
NM_201590.2:c.1640G>C (CACNB2) NP_963884.2:p.Arg547Thr
NM_201593.2:c.1688G>C (CACNB2) NP_963887.2:p.Arg563Thr
NM_201596.2:c.1802G>C (CACNB2) NP_963890.2:p.Arg601Thr
NM_201597.2:c.1730G>C (CACNB2) NP_963891.1:p.Arg577Thr
XM_005252588.2:c.1544G>C (CACNB2) XP_005252645.1:p.Arg515Thr
XM_005252591.2:c.962G>C (CACNB2) XP_005252648.1:p.Arg321Thr
XM_006717502.2:c.1622G>C (CACNB2) XP_006717565.1:p.Arg541Thr
XM_011519659.1:c.1568G>C (CACNB2) XP_011517961.1:p.Arg523Thr
XM_011519660.1:c.1523G>C (CACNB2) XP_011517962.1:p.Arg508Thr
NM_001330060.1:c.1523G>C (CACNB2) NP_001316989.1:p.Arg508Thr
XM_005252588.4:c.1544G>C (CACNB2) XP_005252645.1:p.Arg515Thr
XM_005252591.3:c.962G>C (CACNB2) XP_005252648.1:p.Arg321Thr
XM_006717502.3:c.1622G>C (CACNB2) XP_006717565.1:p.Arg541Thr
XM_011519659.2:c.1568G>C (CACNB2) XP_011517961.1:p.Arg523Thr
XM_017016625.1:c.962G>C (CACNB2) XP_016872114.1:p.Arg321Thr
XR_001747060.1:n.2423+2526C>G (NSUN6)
XR_001747198.1:n.1927G>C (CACNB2)
NM_000724.4:c.1637G>C (CACNB2) NP_000715.2:p.Arg546Thr
NM_001167945.2:c.1604G>C (CACNB2) NP_001161417.1:p.Arg535Thr
NM_001330060.2:c.1523G>C (CACNB2) NP_001316989.1:p.Arg508Thr
NM_201570.3:c.1658G>C (CACNB2) NP_963864.1:p.Arg553Thr
NM_201571.4:c.1718G>C (CACNB2) NP_963865.2:p.Arg573Thr
NM_201572.4:c.1646G>C (CACNB2) NP_963866.2:p.Arg549Thr
NM_201590.3:c.1640G>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Arg547Thr
NM_201593.3:c.1688G>C (CACNB2) NP_963887.2:p.Arg563Thr
NM_201596.3:c.1802G>C (CACNB2) MANE Select NP_963890.2:p.Arg601Thr
NM_201597.3:c.1730G>C (CACNB2) NP_963891.1:p.Arg577Thr