Canonical Allele Identifier: CA376071645
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539399A>C , CM000672.2:g.18539399A>C GRCh38
NC_000010.10:g.18828328A>C , CM000672.1:g.18828328A>C GRCh37
NC_000010.9:g.18868334A>C NCBI36
NG_016195.1:g.403723A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1514A>C (CACNB2) ENSP00000366532.4:p.Glu505Ala
ENST00000377319.9:c.1379A>C (CACNB2) ENSP00000366536.3:p.Glu460Ala
ENST00000645287.2:c.1502A>C (CACNB2) ENSP00000496203.1:p.Glu501Ala
ENST00000282343.13:c.1574A>C (CACNB2) ENSP00000282343.8:p.Glu525Ala
ENST00000324631.13:c.1658A>C (CACNB2) MANE Select ENSP00000320025.8:p.Glu553Ala
ENST00000377315.5:c.1514A>C (CACNB2) ENSP00000366532.4:p.Glu505Ala
ENST00000377319.8:c.1379A>C (CACNB2) ENSP00000366536.3:p.Glu460Ala
ENST00000377329.10:c.1496A>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Glu499Ala
ENST00000377331.8:c.1283A>C (CACNB2) ENSP00000366548.4:p.Glu428Ala
ENST00000643096.2:c.1460A>C (CACNB2) ENSP00000494209.2:p.Glu487Ala
ENST00000645287.1:c.1502A>C (CACNB2) ENSP00000496203.1:p.Glu501Ala
ENST00000647168.2:c.*799A>C (CACNB2) ENSP00000495854.2:n.*799A>C
ENST00000650685.1:c.1400A>C (CACNB2) ENSP00000498460.1:p.Glu467Ala
ENST00000651330.1:c.*932A>C (CACNB2) ENSP00000498457.1:n.*932A>C
ENST00000651468.1:c.1215A>C (CACNB2) ENSP00000498352.1:n.1215A>C
ENST00000651928.1:c.*897A>C (CACNB2) ENSP00000499177.1:n.*897A>C
ENST00000652391.1:c.1478A>C (CACNB2) ENSP00000498938.1:p.Glu493Ala
ENST00000652478.1:c.*758A>C (CACNB2) ENSP00000498812.1:n.*758A>C
ENST00000282343.12:c.1574A>C (CACNB2) ENSP00000282343.8:p.Glu525Ala
ENST00000324631.11:c.1658A>C (CACNB2) ENSP00000320025.7:p.Glu553Ala
ENST00000352115.10:c.1586A>C (CACNB2) ENSP00000344474.6:p.Glu529Ala
ENST00000377315.4:c.1514A>C (CACNB2) ENSP00000366532.4:p.Glu505Ala
ENST00000377319.7:c.1379A>C (CACNB2) ENSP00000366536.3:p.Glu460Ala
ENST00000377328.5:c.908A>C (CACNB2) ENSP00000366545.1:p.Glu303Ala
ENST00000377329.8:c.1496A>C (CACNB2) ENSP00000366546.4:p.Glu499Ala
ENST00000377331.6:c.1502A>C (CACNB2) ENSP00000366548.2:p.Glu501Ala
ENST00000396576.6:c.1493A>C (CACNB2) ENSP00000379821.2:p.Glu498Ala
ENST00000612134.4:c.1362A>C (CACNB2) ENSP00000480563.1:n.1362A>C
ENST00000612743.1:c.170A>C (CACNB2) ENSP00000478676.1:p.Glu57Ala
ENST00000615785.4:c.743A>C (CACNB2) ENSP00000480260.1:p.Glu248Ala
ENST00000617363.4:c.1421A>C (CACNB2) ENSP00000479756.1:p.Glu474Ala
NM_000724.3:c.1493A>C (CACNB2) NP_000715.2:p.Glu498Ala
NM_001167945.1:c.1460A>C (CACNB2) NP_001161417.1:p.Glu487Ala
NM_201570.2:c.1514A>C (CACNB2) NP_963864.1:p.Glu505Ala
NM_201571.3:c.1574A>C (CACNB2) NP_963865.2:p.Glu525Ala
NM_201572.3:c.1502A>C (CACNB2) NP_963866.2:p.Glu501Ala
NM_201590.2:c.1496A>C (CACNB2) NP_963884.2:p.Glu499Ala
NM_201593.2:c.1544A>C (CACNB2) NP_963887.2:p.Glu515Ala
NM_201596.2:c.1658A>C (CACNB2) NP_963890.2:p.Glu553Ala
NM_201597.2:c.1586A>C (CACNB2) NP_963891.1:p.Glu529Ala
XM_005252588.2:c.1400A>C (CACNB2) XP_005252645.1:p.Glu467Ala
XM_005252591.2:c.818A>C (CACNB2) XP_005252648.1:p.Glu273Ala
XM_006717502.2:c.1478A>C (CACNB2) XP_006717565.1:p.Glu493Ala
XM_011519659.1:c.1424A>C (CACNB2) XP_011517961.1:p.Glu475Ala
XM_011519660.1:c.1379A>C (CACNB2) XP_011517962.1:p.Glu460Ala
NM_001330060.1:c.1379A>C (CACNB2) NP_001316989.1:p.Glu460Ala
XM_005252588.4:c.1400A>C (CACNB2) XP_005252645.1:p.Glu467Ala
XM_005252591.3:c.818A>C (CACNB2) XP_005252648.1:p.Glu273Ala
XM_006717502.3:c.1478A>C (CACNB2) XP_006717565.1:p.Glu493Ala
XM_011519659.2:c.1424A>C (CACNB2) XP_011517961.1:p.Glu475Ala
XM_017016625.1:c.818A>C (CACNB2) XP_016872114.1:p.Glu273Ala
XR_001747060.1:n.2423+2670T>G (NSUN6)
XR_001747198.1:n.1783A>C (CACNB2)
NM_000724.4:c.1493A>C (CACNB2) NP_000715.2:p.Glu498Ala
NM_001167945.2:c.1460A>C (CACNB2) NP_001161417.1:p.Glu487Ala
NM_001330060.2:c.1379A>C (CACNB2) NP_001316989.1:p.Glu460Ala
NM_201570.3:c.1514A>C (CACNB2) NP_963864.1:p.Glu505Ala
NM_201571.4:c.1574A>C (CACNB2) NP_963865.2:p.Glu525Ala
NM_201572.4:c.1502A>C (CACNB2) NP_963866.2:p.Glu501Ala
NM_201590.3:c.1496A>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Glu499Ala
NM_201593.3:c.1544A>C (CACNB2) NP_963887.2:p.Glu515Ala
NM_201596.3:c.1658A>C (CACNB2) MANE Select NP_963890.2:p.Glu553Ala
NM_201597.3:c.1586A>C (CACNB2) NP_963891.1:p.Glu529Ala