Canonical Allele Identifier: CA376071905
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539464T>A , CM000672.2:g.18539464T>A GRCh38
NC_000010.10:g.18828393T>A , CM000672.1:g.18828393T>A GRCh37
NC_000010.9:g.18868399T>A NCBI36
NG_016195.1:g.403788T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1579T>A (CACNB2) ENSP00000366532.4:p.Ser527Thr
ENST00000377319.9:c.1444T>A (CACNB2) ENSP00000366536.3:p.Ser482Thr
ENST00000645287.2:c.1567T>A (CACNB2) ENSP00000496203.1:p.Ser523Thr
ENST00000282343.13:c.1639T>A (CACNB2) ENSP00000282343.8:p.Ser547Thr
ENST00000324631.13:c.1723T>A (CACNB2) MANE Select ENSP00000320025.8:p.Ser575Thr
ENST00000377315.5:c.1579T>A (CACNB2) ENSP00000366532.4:p.Ser527Thr
ENST00000377319.8:c.1444T>A (CACNB2) ENSP00000366536.3:p.Ser482Thr
ENST00000377329.10:c.1561T>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ser521Thr
ENST00000377331.8:c.1348T>A (CACNB2) ENSP00000366548.4:p.Ser450Thr
ENST00000643096.2:c.1525T>A (CACNB2) ENSP00000494209.2:p.Ser509Thr
ENST00000645287.1:c.1567T>A (CACNB2) ENSP00000496203.1:p.Ser523Thr
ENST00000647168.2:c.*864T>A (CACNB2) ENSP00000495854.2:n.*864T>A
ENST00000650685.1:c.1465T>A (CACNB2) ENSP00000498460.1:p.Ser489Thr
ENST00000651330.1:c.*997T>A (CACNB2) ENSP00000498457.1:n.*997T>A
ENST00000651468.1:c.1280T>A (CACNB2) ENSP00000498352.1:n.1280T>A
ENST00000651928.1:c.*962T>A (CACNB2) ENSP00000499177.1:n.*962T>A
ENST00000652391.1:c.1543T>A (CACNB2) ENSP00000498938.1:p.Ser515Thr
ENST00000652478.1:c.*823T>A (CACNB2) ENSP00000498812.1:n.*823T>A
ENST00000282343.12:c.1639T>A (CACNB2) ENSP00000282343.8:p.Ser547Thr
ENST00000324631.11:c.1723T>A (CACNB2) ENSP00000320025.7:p.Ser575Thr
ENST00000352115.10:c.1651T>A (CACNB2) ENSP00000344474.6:p.Ser551Thr
ENST00000377315.4:c.1579T>A (CACNB2) ENSP00000366532.4:p.Ser527Thr
ENST00000377319.7:c.1444T>A (CACNB2) ENSP00000366536.3:p.Ser482Thr
ENST00000377328.5:c.973T>A (CACNB2) ENSP00000366545.1:p.Ser325Thr
ENST00000377329.8:c.1561T>A (CACNB2) ENSP00000366546.4:p.Ser521Thr
ENST00000377331.6:c.1567T>A (CACNB2) ENSP00000366548.2:p.Ser523Thr
ENST00000396576.6:c.1558T>A (CACNB2) ENSP00000379821.2:p.Ser520Thr
ENST00000612134.4:c.1427T>A (CACNB2) ENSP00000480563.1:n.1427T>A
ENST00000612743.1:c.235T>A (CACNB2) ENSP00000478676.1:p.Ser79Thr
ENST00000615785.4:c.808T>A (CACNB2) ENSP00000480260.1:p.Ser270Thr
ENST00000617363.4:c.1486T>A (CACNB2) ENSP00000479756.1:p.Ser496Thr
NM_000724.3:c.1558T>A (CACNB2) NP_000715.2:p.Ser520Thr
NM_001167945.1:c.1525T>A (CACNB2) NP_001161417.1:p.Ser509Thr
NM_201570.2:c.1579T>A (CACNB2) NP_963864.1:p.Ser527Thr
NM_201571.3:c.1639T>A (CACNB2) NP_963865.2:p.Ser547Thr
NM_201572.3:c.1567T>A (CACNB2) NP_963866.2:p.Ser523Thr
NM_201590.2:c.1561T>A (CACNB2) NP_963884.2:p.Ser521Thr
NM_201593.2:c.1609T>A (CACNB2) NP_963887.2:p.Ser537Thr
NM_201596.2:c.1723T>A (CACNB2) NP_963890.2:p.Ser575Thr
NM_201597.2:c.1651T>A (CACNB2) NP_963891.1:p.Ser551Thr
XM_005252588.2:c.1465T>A (CACNB2) XP_005252645.1:p.Ser489Thr
XM_005252591.2:c.883T>A (CACNB2) XP_005252648.1:p.Ser295Thr
XM_006717502.2:c.1543T>A (CACNB2) XP_006717565.1:p.Ser515Thr
XM_011519659.1:c.1489T>A (CACNB2) XP_011517961.1:p.Ser497Thr
XM_011519660.1:c.1444T>A (CACNB2) XP_011517962.1:p.Ser482Thr
NM_001330060.1:c.1444T>A (CACNB2) NP_001316989.1:p.Ser482Thr
XM_005252588.4:c.1465T>A (CACNB2) XP_005252645.1:p.Ser489Thr
XM_005252591.3:c.883T>A (CACNB2) XP_005252648.1:p.Ser295Thr
XM_006717502.3:c.1543T>A (CACNB2) XP_006717565.1:p.Ser515Thr
XM_011519659.2:c.1489T>A (CACNB2) XP_011517961.1:p.Ser497Thr
XM_017016625.1:c.883T>A (CACNB2) XP_016872114.1:p.Ser295Thr
XR_001747060.1:n.2423+2605A>T (NSUN6)
XR_001747198.1:n.1848T>A (CACNB2)
NM_000724.4:c.1558T>A (CACNB2) NP_000715.2:p.Ser520Thr
NM_001167945.2:c.1525T>A (CACNB2) NP_001161417.1:p.Ser509Thr
NM_001330060.2:c.1444T>A (CACNB2) NP_001316989.1:p.Ser482Thr
NM_201570.3:c.1579T>A (CACNB2) NP_963864.1:p.Ser527Thr
NM_201571.4:c.1639T>A (CACNB2) NP_963865.2:p.Ser547Thr
NM_201572.4:c.1567T>A (CACNB2) NP_963866.2:p.Ser523Thr
NM_201590.3:c.1561T>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Ser521Thr
NM_201593.3:c.1609T>A (CACNB2) NP_963887.2:p.Ser537Thr
NM_201596.3:c.1723T>A (CACNB2) MANE Select NP_963890.2:p.Ser575Thr
NM_201597.3:c.1651T>A (CACNB2) NP_963891.1:p.Ser551Thr