Canonical Allele Identifier: CA468440027
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18534224T>C , CM000672.2:g.18534224T>C GRCh38
NC_000010.10:g.18823153T>C , CM000672.1:g.18823153T>C GRCh37
NC_000010.9:g.18863159T>C NCBI36
NG_016195.1:g.398548T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1059T>C (CACNB2) ENSP00000366532.4:p.Pro353=
ENST00000377319.9:c.924T>C (CACNB2) ENSP00000366536.3:p.Pro308=
ENST00000645287.2:c.1047T>C (CACNB2) ENSP00000496203.1:p.Pro349=
ENST00000282343.13:c.1119T>C (CACNB2) ENSP00000282343.8:p.Pro373=
ENST00000324631.13:c.1203T>C (CACNB2) MANE Select ENSP00000320025.8:p.Pro401=
ENST00000377315.5:c.1059T>C (CACNB2) ENSP00000366532.4:p.Pro353=
ENST00000377319.8:c.924T>C (CACNB2) ENSP00000366536.3:p.Pro308=
ENST00000377329.10:c.1041T>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Pro347=
ENST00000377331.8:c.924T>C (CACNB2) ENSP00000366548.4:p.Pro308=
ENST00000643096.2:c.1005T>C (CACNB2) ENSP00000494209.2:p.Pro335=
ENST00000645287.1:c.1047T>C (CACNB2) ENSP00000496203.1:p.Pro349=
ENST00000647168.2:c.*344T>C (CACNB2) ENSP00000495854.2:n.*344T>C
ENST00000650685.1:c.945T>C (CACNB2) ENSP00000498460.1:p.Pro315=
ENST00000651330.1:c.*477T>C (CACNB2) ENSP00000498457.1:n.*477T>C
ENST00000651468.1:c.760T>C (CACNB2) ENSP00000498352.1:n.760T>C
ENST00000651928.1:c.*442T>C (CACNB2) ENSP00000499177.1:n.*442T>C
ENST00000652391.1:c.1023T>C (CACNB2) ENSP00000498938.1:p.Pro341=
ENST00000652478.1:c.*303T>C (CACNB2) ENSP00000498812.1:n.*303T>C
ENST00000282343.12:c.1119T>C (CACNB2) ENSP00000282343.8:p.Pro373=
ENST00000324631.11:c.1203T>C (CACNB2) ENSP00000320025.7:p.Pro401=
ENST00000352115.10:c.1131T>C (CACNB2) ENSP00000344474.6:p.Pro377=
ENST00000377315.4:c.1059T>C (CACNB2) ENSP00000366532.4:p.Pro353=
ENST00000377319.7:c.924T>C (CACNB2) ENSP00000366536.3:p.Pro308=
ENST00000377328.5:c.457-1877T>C (CACNB2) ENSP00000366545.1:n.457-1877T>C
ENST00000377329.8:c.1041T>C (CACNB2) ENSP00000366546.4:p.Pro347=
ENST00000377331.6:c.1047T>C (CACNB2) ENSP00000366548.2:p.Pro349=
ENST00000396576.6:c.1038T>C (CACNB2) ENSP00000379821.2:p.Pro346=
ENST00000612134.4:c.907T>C (CACNB2) ENSP00000480563.1:n.907T>C
ENST00000612743.1:c.35-5040T>C (CACNB2) ENSP00000478676.1:n.35-5040T>C
ENST00000615785.4:c.292-1877T>C (CACNB2) ENSP00000480260.1:n.292-1877T>C
ENST00000617363.4:c.966T>C (CACNB2) ENSP00000479756.1:p.Pro322=
NM_000724.3:c.1038T>C (CACNB2) NP_000715.2:p.Pro346=
NM_001167945.1:c.1005T>C (CACNB2) NP_001161417.1:p.Pro335=
NM_201570.2:c.1059T>C (CACNB2) NP_963864.1:p.Pro353=
NM_201571.3:c.1119T>C (CACNB2) NP_963865.2:p.Pro373=
NM_201572.3:c.1047T>C (CACNB2) NP_963866.2:p.Pro349=
NM_201590.2:c.1041T>C (CACNB2) NP_963884.2:p.Pro347=
NM_201593.2:c.1089T>C (CACNB2) NP_963887.2:p.Pro363=
NM_201596.2:c.1203T>C (CACNB2) NP_963890.2:p.Pro401=
NM_201597.2:c.1131T>C (CACNB2) NP_963891.1:p.Pro377=
XM_005252588.2:c.945T>C (CACNB2) XP_005252645.1:p.Pro315=
XM_005252591.2:c.363T>C (CACNB2) XP_005252648.1:p.Pro121=
XM_006717502.2:c.1023T>C (CACNB2) XP_006717565.1:p.Pro341=
XM_011519659.1:c.969T>C (CACNB2) XP_011517961.1:p.Pro323=
XM_011519660.1:c.924T>C (CACNB2) XP_011517962.1:p.Pro308=
XR_930717.1:n.72+4970A>G
NM_001330060.1:c.924T>C (CACNB2) NP_001316989.1:p.Pro308=
XM_005252588.4:c.945T>C (CACNB2) XP_005252645.1:p.Pro315=
XM_005252591.3:c.363T>C (CACNB2) XP_005252648.1:p.Pro121=
XM_006717502.3:c.1023T>C (CACNB2) XP_006717565.1:p.Pro341=
XM_011519659.2:c.969T>C (CACNB2) XP_011517961.1:p.Pro323=
XM_017016625.1:c.363T>C (CACNB2) XP_016872114.1:p.Pro121=
XR_001747060.1:n.2423+7845A>G (NSUN6)
XR_001747198.1:n.1328T>C (CACNB2)
NM_000724.4:c.1038T>C (CACNB2) NP_000715.2:p.Pro346=
NM_001167945.2:c.1005T>C (CACNB2) NP_001161417.1:p.Pro335=
NM_001330060.2:c.924T>C (CACNB2) NP_001316989.1:p.Pro308=
NM_201570.3:c.1059T>C (CACNB2) NP_963864.1:p.Pro353=
NM_201571.4:c.1119T>C (CACNB2) NP_963865.2:p.Pro373=
NM_201572.4:c.1047T>C (CACNB2) NP_963866.2:p.Pro349=
NM_201590.3:c.1041T>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Pro347=
NM_201593.3:c.1089T>C (CACNB2) NP_963887.2:p.Pro363=
NM_201596.3:c.1203T>C (CACNB2) MANE Select NP_963890.2:p.Pro401=
NM_201597.3:c.1131T>C (CACNB2) NP_963891.1:p.Pro377=