Canonical Allele Identifier: CA376071505
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539358C>A , CM000672.2:g.18539358C>A GRCh38
NC_000010.10:g.18828287C>A , CM000672.1:g.18828287C>A GRCh37
NC_000010.9:g.18868293C>A NCBI36
NG_016195.1:g.403682C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1473C>A (CACNB2) ENSP00000366532.4:p.His491Gln
ENST00000377319.9:c.1338C>A (CACNB2) ENSP00000366536.3:p.His446Gln
ENST00000645287.2:c.1461C>A (CACNB2) ENSP00000496203.1:p.His487Gln
ENST00000282343.13:c.1533C>A (CACNB2) ENSP00000282343.8:p.His511Gln
ENST00000324631.13:c.1617C>A (CACNB2) MANE Select ENSP00000320025.8:p.His539Gln
ENST00000377315.5:c.1473C>A (CACNB2) ENSP00000366532.4:p.His491Gln
ENST00000377319.8:c.1338C>A (CACNB2) ENSP00000366536.3:p.His446Gln
ENST00000377329.10:c.1455C>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.His485Gln
ENST00000377331.8:c.1242C>A (CACNB2) ENSP00000366548.4:p.His414Gln
ENST00000643096.2:c.1419C>A (CACNB2) ENSP00000494209.2:p.His473Gln
ENST00000645287.1:c.1461C>A (CACNB2) ENSP00000496203.1:p.His487Gln
ENST00000647168.2:c.*758C>A (CACNB2) ENSP00000495854.2:n.*758C>A
ENST00000650685.1:c.1359C>A (CACNB2) ENSP00000498460.1:p.His453Gln
ENST00000651330.1:c.*891C>A (CACNB2) ENSP00000498457.1:n.*891C>A
ENST00000651468.1:c.1174C>A (CACNB2) ENSP00000498352.1:n.1174C>A
ENST00000651928.1:c.*856C>A (CACNB2) ENSP00000499177.1:n.*856C>A
ENST00000652391.1:c.1437C>A (CACNB2) ENSP00000498938.1:p.His479Gln
ENST00000652478.1:c.*717C>A (CACNB2) ENSP00000498812.1:n.*717C>A
ENST00000282343.12:c.1533C>A (CACNB2) ENSP00000282343.8:p.His511Gln
ENST00000324631.11:c.1617C>A (CACNB2) ENSP00000320025.7:p.His539Gln
ENST00000352115.10:c.1545C>A (CACNB2) ENSP00000344474.6:p.His515Gln
ENST00000377315.4:c.1473C>A (CACNB2) ENSP00000366532.4:p.His491Gln
ENST00000377319.7:c.1338C>A (CACNB2) ENSP00000366536.3:p.His446Gln
ENST00000377328.5:c.867C>A (CACNB2) ENSP00000366545.1:p.His289Gln
ENST00000377329.8:c.1455C>A (CACNB2) ENSP00000366546.4:p.His485Gln
ENST00000377331.6:c.1461C>A (CACNB2) ENSP00000366548.2:p.His487Gln
ENST00000396576.6:c.1452C>A (CACNB2) ENSP00000379821.2:p.His484Gln
ENST00000612134.4:c.1321C>A (CACNB2) ENSP00000480563.1:n.1321C>A
ENST00000612743.1:c.129C>A (CACNB2) ENSP00000478676.1:p.His43Gln
ENST00000615785.4:c.702C>A (CACNB2) ENSP00000480260.1:p.His234Gln
ENST00000617363.4:c.1380C>A (CACNB2) ENSP00000479756.1:p.His460Gln
NM_000724.3:c.1452C>A (CACNB2) NP_000715.2:p.His484Gln
NM_001167945.1:c.1419C>A (CACNB2) NP_001161417.1:p.His473Gln
NM_201570.2:c.1473C>A (CACNB2) NP_963864.1:p.His491Gln
NM_201571.3:c.1533C>A (CACNB2) NP_963865.2:p.His511Gln
NM_201572.3:c.1461C>A (CACNB2) NP_963866.2:p.His487Gln
NM_201590.2:c.1455C>A (CACNB2) NP_963884.2:p.His485Gln
NM_201593.2:c.1503C>A (CACNB2) NP_963887.2:p.His501Gln
NM_201596.2:c.1617C>A (CACNB2) NP_963890.2:p.His539Gln
NM_201597.2:c.1545C>A (CACNB2) NP_963891.1:p.His515Gln
XM_005252588.2:c.1359C>A (CACNB2) XP_005252645.1:p.His453Gln
XM_005252591.2:c.777C>A (CACNB2) XP_005252648.1:p.His259Gln
XM_006717502.2:c.1437C>A (CACNB2) XP_006717565.1:p.His479Gln
XM_011519659.1:c.1383C>A (CACNB2) XP_011517961.1:p.His461Gln
XM_011519660.1:c.1338C>A (CACNB2) XP_011517962.1:p.His446Gln
NM_001330060.1:c.1338C>A (CACNB2) NP_001316989.1:p.His446Gln
XM_005252588.4:c.1359C>A (CACNB2) XP_005252645.1:p.His453Gln
XM_005252591.3:c.777C>A (CACNB2) XP_005252648.1:p.His259Gln
XM_006717502.3:c.1437C>A (CACNB2) XP_006717565.1:p.His479Gln
XM_011519659.2:c.1383C>A (CACNB2) XP_011517961.1:p.His461Gln
XM_017016625.1:c.777C>A (CACNB2) XP_016872114.1:p.His259Gln
XR_001747060.1:n.2423+2711G>T (NSUN6)
XR_001747198.1:n.1742C>A (CACNB2)
NM_000724.4:c.1452C>A (CACNB2) NP_000715.2:p.His484Gln
NM_001167945.2:c.1419C>A (CACNB2) NP_001161417.1:p.His473Gln
NM_001330060.2:c.1338C>A (CACNB2) NP_001316989.1:p.His446Gln
NM_201570.3:c.1473C>A (CACNB2) NP_963864.1:p.His491Gln
NM_201571.4:c.1533C>A (CACNB2) NP_963865.2:p.His511Gln
NM_201572.4:c.1461C>A (CACNB2) NP_963866.2:p.His487Gln
NM_201590.3:c.1455C>A (CACNB2) MANE Plus Clinical NP_963884.2:p.His485Gln
NM_201593.3:c.1503C>A (CACNB2) NP_963887.2:p.His501Gln
NM_201596.3:c.1617C>A (CACNB2) MANE Select NP_963890.2:p.His539Gln
NM_201597.3:c.1545C>A (CACNB2) NP_963891.1:p.His515Gln