Canonical Allele Identifier: CA1894173179
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539354A= , CM000672.2:g.18539354A= GRCh38
NC_000010.10:g.18828283A= , CM000672.1:g.18828283A= GRCh37
NC_000010.9:g.18868289A= NCBI36
NG_016195.1:g.403678A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1469A= (CACNB2) ENSP00000366532.4:p.His490=
ENST00000377319.9:c.1334A= (CACNB2) ENSP00000366536.3:p.His445=
ENST00000645287.2:c.1457A= (CACNB2) ENSP00000496203.1:p.His486=
ENST00000282343.13:c.1529A= (CACNB2) ENSP00000282343.8:p.His510=
ENST00000324631.13:c.1613A= (CACNB2) MANE Select ENSP00000320025.8:p.His538=
ENST00000377315.5:c.1469A= (CACNB2) ENSP00000366532.4:p.His490=
ENST00000377319.8:c.1334A= (CACNB2) ENSP00000366536.3:p.His445=
ENST00000377329.10:c.1451A= (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.His484=
ENST00000377331.8:c.1238A= (CACNB2) ENSP00000366548.4:p.His413=
ENST00000643096.2:c.1415A= (CACNB2) ENSP00000494209.2:p.His472=
ENST00000645287.1:c.1457A= (CACNB2) ENSP00000496203.1:p.His486=
ENST00000647168.2:c.*754A= (CACNB2) ENSP00000495854.2:n.*754A=
ENST00000650685.1:c.1355A= (CACNB2) ENSP00000498460.1:p.His452=
ENST00000651330.1:c.*887A= (CACNB2) ENSP00000498457.1:n.*887A=
ENST00000651468.1:c.1170A= (CACNB2) ENSP00000498352.1:n.1170A=
ENST00000651928.1:c.*852A= (CACNB2) ENSP00000499177.1:n.*852A=
ENST00000652391.1:c.1433A= (CACNB2) ENSP00000498938.1:p.His478=
ENST00000652478.1:c.*713A= (CACNB2) ENSP00000498812.1:n.*713A=
ENST00000282343.12:c.1529A= (CACNB2) ENSP00000282343.8:p.His510=
ENST00000324631.11:c.1613A= (CACNB2) ENSP00000320025.7:p.His538=
ENST00000352115.10:c.1541A= (CACNB2) ENSP00000344474.6:p.His514=
ENST00000377315.4:c.1469A= (CACNB2) ENSP00000366532.4:p.His490=
ENST00000377319.7:c.1334A= (CACNB2) ENSP00000366536.3:p.His445=
ENST00000377328.5:c.863A= (CACNB2) ENSP00000366545.1:p.His288=
ENST00000377329.8:c.1451A= (CACNB2) ENSP00000366546.4:p.His484=
ENST00000377331.6:c.1457A= (CACNB2) ENSP00000366548.2:p.His486=
ENST00000396576.6:c.1448A= (CACNB2) ENSP00000379821.2:p.His483=
ENST00000612134.4:c.1317A= (CACNB2) ENSP00000480563.1:n.1317A=
ENST00000612743.1:c.125A= (CACNB2) ENSP00000478676.1:p.His42=
ENST00000615785.4:c.698A= (CACNB2) ENSP00000480260.1:p.His233=
ENST00000617363.4:c.1376A= (CACNB2) ENSP00000479756.1:p.His459=
NM_000724.3:c.1448A= (CACNB2) NP_000715.2:p.His483=
NM_001167945.1:c.1415A= (CACNB2) NP_001161417.1:p.His472=
NM_201570.2:c.1469A= (CACNB2) NP_963864.1:p.His490=
NM_201571.3:c.1529A= (CACNB2) NP_963865.2:p.His510=
NM_201572.3:c.1457A= (CACNB2) NP_963866.2:p.His486=
NM_201590.2:c.1451A= (CACNB2) NP_963884.2:p.His484=
NM_201593.2:c.1499A= (CACNB2) NP_963887.2:p.His500=
NM_201596.2:c.1613A= (CACNB2) NP_963890.2:p.His538=
NM_201597.2:c.1541A= (CACNB2) NP_963891.1:p.His514=
XM_005252588.2:c.1355A= (CACNB2) XP_005252645.1:p.His452=
XM_005252591.2:c.773A= (CACNB2) XP_005252648.1:p.His258=
XM_006717502.2:c.1433A= (CACNB2) XP_006717565.1:p.His478=
XM_011519659.1:c.1379A= (CACNB2) XP_011517961.1:p.His460=
XM_011519660.1:c.1334A= (CACNB2) XP_011517962.1:p.His445=
NM_001330060.1:c.1334A= (CACNB2) NP_001316989.1:p.His445=
XM_005252588.4:c.1355A= (CACNB2) XP_005252645.1:p.His452=
XM_005252591.3:c.773A= (CACNB2) XP_005252648.1:p.His258=
XM_006717502.3:c.1433A= (CACNB2) XP_006717565.1:p.His478=
XM_011519659.2:c.1379A= (CACNB2) XP_011517961.1:p.His460=
XM_017016625.1:c.773A= (CACNB2) XP_016872114.1:p.His258=
XR_001747060.1:n.2423+2715T= (NSUN6)
XR_001747198.1:n.1738A= (CACNB2)
NM_000724.4:c.1448A= (CACNB2) NP_000715.2:p.His483=
NM_001167945.2:c.1415A= (CACNB2) NP_001161417.1:p.His472=
NM_001330060.2:c.1334A= (CACNB2) NP_001316989.1:p.His445=
NM_201570.3:c.1469A= (CACNB2) NP_963864.1:p.His490=
NM_201571.4:c.1529A= (CACNB2) NP_963865.2:p.His510=
NM_201572.4:c.1457A= (CACNB2) NP_963866.2:p.His486=
NM_201590.3:c.1451A= (CACNB2) MANE Plus Clinical NP_963884.2:p.His484=
NM_201593.3:c.1499A= (CACNB2) NP_963887.2:p.His500=
NM_201596.3:c.1613A= (CACNB2) MANE Select NP_963890.2:p.His538=
NM_201597.3:c.1541A= (CACNB2) NP_963891.1:p.His514=