Canonical Allele Identifier: CA301862
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 180290
dbSNP Id: rs730880059

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539383G>A , CM000672.2:g.18539383G>A GRCh38
NC_000010.10:g.18828312G>A , CM000672.1:g.18828312G>A GRCh37
NC_000010.9:g.18868318G>A NCBI36
NG_016195.1:g.403707G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377315.6:c.1498G>A (CACNB2) ENSP00000366532.4:p.Gly500Ser
ENST00000377319.9:c.1363G>A (CACNB2) ENSP00000366536.3:p.Gly455Ser
ENST00000645287.2:c.1486G>A (CACNB2) ENSP00000496203.1:p.Gly496Ser
ENST00000282343.13:c.1558G>A (CACNB2) ENSP00000282343.8:p.Gly520Ser
ENST00000324631.13:c.1642G>A (CACNB2) MANE Select ENSP00000320025.8:p.Gly548Ser
ENST00000377315.5:c.1498G>A (CACNB2) ENSP00000366532.4:p.Gly500Ser
ENST00000377319.8:c.1363G>A (CACNB2) ENSP00000366536.3:p.Gly455Ser
ENST00000377329.10:c.1480G>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Gly494Ser
ENST00000377331.8:c.1267G>A (CACNB2) ENSP00000366548.4:p.Gly423Ser
ENST00000643096.2:c.1444G>A (CACNB2) ENSP00000494209.2:p.Gly482Ser
ENST00000645287.1:c.1486G>A (CACNB2) ENSP00000496203.1:p.Gly496Ser
ENST00000647168.2:c.*783G>A (CACNB2) ENSP00000495854.2:n.*783G>A
ENST00000650685.1:c.1384G>A (CACNB2) ENSP00000498460.1:p.Gly462Ser
ENST00000651330.1:c.*916G>A (CACNB2) ENSP00000498457.1:n.*916G>A
ENST00000651468.1:c.1199G>A (CACNB2) ENSP00000498352.1:n.1199G>A
ENST00000651928.1:c.*881G>A (CACNB2) ENSP00000499177.1:n.*881G>A
ENST00000652391.1:c.1462G>A (CACNB2) ENSP00000498938.1:p.Gly488Ser
ENST00000652478.1:c.*742G>A (CACNB2) ENSP00000498812.1:n.*742G>A
ENST00000282343.12:c.1558G>A (CACNB2) ENSP00000282343.8:p.Gly520Ser
ENST00000324631.11:c.1642G>A (CACNB2) ENSP00000320025.7:p.Gly548Ser
ENST00000352115.10:c.1570G>A (CACNB2) ENSP00000344474.6:p.Gly524Ser
ENST00000377315.4:c.1498G>A (CACNB2) ENSP00000366532.4:p.Gly500Ser
ENST00000377319.7:c.1363G>A (CACNB2) ENSP00000366536.3:p.Gly455Ser
ENST00000377328.5:c.892G>A (CACNB2) ENSP00000366545.1:p.Gly298Ser
ENST00000377329.8:c.1480G>A (CACNB2) ENSP00000366546.4:p.Gly494Ser
ENST00000377331.6:c.1486G>A (CACNB2) ENSP00000366548.2:p.Gly496Ser
ENST00000396576.6:c.1477G>A (CACNB2) ENSP00000379821.2:p.Gly493Ser
ENST00000612134.4:c.1346G>A (CACNB2) ENSP00000480563.1:n.1346G>A
ENST00000612743.1:c.154G>A (CACNB2) ENSP00000478676.1:p.Gly52Ser
ENST00000615785.4:c.727G>A (CACNB2) ENSP00000480260.1:p.Gly243Ser
ENST00000617363.4:c.1405G>A (CACNB2) ENSP00000479756.1:p.Gly469Ser
NM_000724.3:c.1477G>A (CACNB2) NP_000715.2:p.Gly493Ser
NM_001167945.1:c.1444G>A (CACNB2) NP_001161417.1:p.Gly482Ser
NM_201570.2:c.1498G>A (CACNB2) NP_963864.1:p.Gly500Ser
NM_201571.3:c.1558G>A (CACNB2) NP_963865.2:p.Gly520Ser
NM_201572.3:c.1486G>A (CACNB2) NP_963866.2:p.Gly496Ser
NM_201590.2:c.1480G>A (CACNB2) NP_963884.2:p.Gly494Ser
NM_201593.2:c.1528G>A (CACNB2) NP_963887.2:p.Gly510Ser
NM_201596.2:c.1642G>A (CACNB2) NP_963890.2:p.Gly548Ser
NM_201597.2:c.1570G>A (CACNB2) NP_963891.1:p.Gly524Ser
XM_005252588.2:c.1384G>A (CACNB2) XP_005252645.1:p.Gly462Ser
XM_005252591.2:c.802G>A (CACNB2) XP_005252648.1:p.Gly268Ser
XM_006717502.2:c.1462G>A (CACNB2) XP_006717565.1:p.Gly488Ser
XM_011519659.1:c.1408G>A (CACNB2) XP_011517961.1:p.Gly470Ser
XM_011519660.1:c.1363G>A (CACNB2) XP_011517962.1:p.Gly455Ser
NM_001330060.1:c.1363G>A (CACNB2) NP_001316989.1:p.Gly455Ser
XM_005252588.4:c.1384G>A (CACNB2) XP_005252645.1:p.Gly462Ser
XM_005252591.3:c.802G>A (CACNB2) XP_005252648.1:p.Gly268Ser
XM_006717502.3:c.1462G>A (CACNB2) XP_006717565.1:p.Gly488Ser
XM_011519659.2:c.1408G>A (CACNB2) XP_011517961.1:p.Gly470Ser
XM_017016625.1:c.802G>A (CACNB2) XP_016872114.1:p.Gly268Ser
XR_001747060.1:n.2423+2686C>T (NSUN6)
XR_001747198.1:n.1767G>A (CACNB2)
NM_000724.4:c.1477G>A (CACNB2) NP_000715.2:p.Gly493Ser
NM_001167945.2:c.1444G>A (CACNB2) NP_001161417.1:p.Gly482Ser
NM_001330060.2:c.1363G>A (CACNB2) NP_001316989.1:p.Gly455Ser
NM_201570.3:c.1498G>A (CACNB2) NP_963864.1:p.Gly500Ser
NM_201571.4:c.1558G>A (CACNB2) NP_963865.2:p.Gly520Ser
NM_201572.4:c.1486G>A (CACNB2) NP_963866.2:p.Gly496Ser
NM_201590.3:c.1480G>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Gly494Ser
NM_201593.3:c.1528G>A (CACNB2) NP_963887.2:p.Gly510Ser
NM_201596.3:c.1642G>A (CACNB2) MANE Select NP_963890.2:p.Gly548Ser
NM_201597.3:c.1570G>A (CACNB2) NP_963891.1:p.Gly524Ser