Canonical Allele Identifier: CA376071764
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539433C>A , CM000672.2:g.18539433C>A GRCh38
NC_000010.10:g.18828362C>A , CM000672.1:g.18828362C>A GRCh37
NC_000010.9:g.18868368C>A NCBI36
NG_016195.1:g.403757C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1548C>A (CACNB2) ENSP00000366532.4:p.Asp516Glu
ENST00000377319.9:c.1413C>A (CACNB2) ENSP00000366536.3:p.Asp471Glu
ENST00000645287.2:c.1536C>A (CACNB2) ENSP00000496203.1:p.Asp512Glu
ENST00000282343.13:c.1608C>A (CACNB2) ENSP00000282343.8:p.Asp536Glu
ENST00000324631.13:c.1692C>A (CACNB2) MANE Select ENSP00000320025.8:p.Asp564Glu
ENST00000377315.5:c.1548C>A (CACNB2) ENSP00000366532.4:p.Asp516Glu
ENST00000377319.8:c.1413C>A (CACNB2) ENSP00000366536.3:p.Asp471Glu
ENST00000377329.10:c.1530C>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asp510Glu
ENST00000377331.8:c.1317C>A (CACNB2) ENSP00000366548.4:p.Asp439Glu
ENST00000643096.2:c.1494C>A (CACNB2) ENSP00000494209.2:p.Asp498Glu
ENST00000645287.1:c.1536C>A (CACNB2) ENSP00000496203.1:p.Asp512Glu
ENST00000647168.2:c.*833C>A (CACNB2) ENSP00000495854.2:n.*833C>A
ENST00000650685.1:c.1434C>A (CACNB2) ENSP00000498460.1:p.Asp478Glu
ENST00000651330.1:c.*966C>A (CACNB2) ENSP00000498457.1:n.*966C>A
ENST00000651468.1:c.1249C>A (CACNB2) ENSP00000498352.1:n.1249C>A
ENST00000651928.1:c.*931C>A (CACNB2) ENSP00000499177.1:n.*931C>A
ENST00000652391.1:c.1512C>A (CACNB2) ENSP00000498938.1:p.Asp504Glu
ENST00000652478.1:c.*792C>A (CACNB2) ENSP00000498812.1:n.*792C>A
ENST00000282343.12:c.1608C>A (CACNB2) ENSP00000282343.8:p.Asp536Glu
ENST00000324631.11:c.1692C>A (CACNB2) ENSP00000320025.7:p.Asp564Glu
ENST00000352115.10:c.1620C>A (CACNB2) ENSP00000344474.6:p.Asp540Glu
ENST00000377315.4:c.1548C>A (CACNB2) ENSP00000366532.4:p.Asp516Glu
ENST00000377319.7:c.1413C>A (CACNB2) ENSP00000366536.3:p.Asp471Glu
ENST00000377328.5:c.942C>A (CACNB2) ENSP00000366545.1:p.Asp314Glu
ENST00000377329.8:c.1530C>A (CACNB2) ENSP00000366546.4:p.Asp510Glu
ENST00000377331.6:c.1536C>A (CACNB2) ENSP00000366548.2:p.Asp512Glu
ENST00000396576.6:c.1527C>A (CACNB2) ENSP00000379821.2:p.Asp509Glu
ENST00000612134.4:c.1396C>A (CACNB2) ENSP00000480563.1:n.1396C>A
ENST00000612743.1:c.204C>A (CACNB2) ENSP00000478676.1:p.Asp68Glu
ENST00000615785.4:c.777C>A (CACNB2) ENSP00000480260.1:p.Asp259Glu
ENST00000617363.4:c.1455C>A (CACNB2) ENSP00000479756.1:p.Asp485Glu
NM_000724.3:c.1527C>A (CACNB2) NP_000715.2:p.Asp509Glu
NM_001167945.1:c.1494C>A (CACNB2) NP_001161417.1:p.Asp498Glu
NM_201570.2:c.1548C>A (CACNB2) NP_963864.1:p.Asp516Glu
NM_201571.3:c.1608C>A (CACNB2) NP_963865.2:p.Asp536Glu
NM_201572.3:c.1536C>A (CACNB2) NP_963866.2:p.Asp512Glu
NM_201590.2:c.1530C>A (CACNB2) NP_963884.2:p.Asp510Glu
NM_201593.2:c.1578C>A (CACNB2) NP_963887.2:p.Asp526Glu
NM_201596.2:c.1692C>A (CACNB2) NP_963890.2:p.Asp564Glu
NM_201597.2:c.1620C>A (CACNB2) NP_963891.1:p.Asp540Glu
XM_005252588.2:c.1434C>A (CACNB2) XP_005252645.1:p.Asp478Glu
XM_005252591.2:c.852C>A (CACNB2) XP_005252648.1:p.Asp284Glu
XM_006717502.2:c.1512C>A (CACNB2) XP_006717565.1:p.Asp504Glu
XM_011519659.1:c.1458C>A (CACNB2) XP_011517961.1:p.Asp486Glu
XM_011519660.1:c.1413C>A (CACNB2) XP_011517962.1:p.Asp471Glu
NM_001330060.1:c.1413C>A (CACNB2) NP_001316989.1:p.Asp471Glu
XM_005252588.4:c.1434C>A (CACNB2) XP_005252645.1:p.Asp478Glu
XM_005252591.3:c.852C>A (CACNB2) XP_005252648.1:p.Asp284Glu
XM_006717502.3:c.1512C>A (CACNB2) XP_006717565.1:p.Asp504Glu
XM_011519659.2:c.1458C>A (CACNB2) XP_011517961.1:p.Asp486Glu
XM_017016625.1:c.852C>A (CACNB2) XP_016872114.1:p.Asp284Glu
XR_001747060.1:n.2423+2636G>T (NSUN6)
XR_001747198.1:n.1817C>A (CACNB2)
NM_000724.4:c.1527C>A (CACNB2) NP_000715.2:p.Asp509Glu
NM_001167945.2:c.1494C>A (CACNB2) NP_001161417.1:p.Asp498Glu
NM_001330060.2:c.1413C>A (CACNB2) NP_001316989.1:p.Asp471Glu
NM_201570.3:c.1548C>A (CACNB2) NP_963864.1:p.Asp516Glu
NM_201571.4:c.1608C>A (CACNB2) NP_963865.2:p.Asp536Glu
NM_201572.4:c.1536C>A (CACNB2) NP_963866.2:p.Asp512Glu
NM_201590.3:c.1530C>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Asp510Glu
NM_201593.3:c.1578C>A (CACNB2) NP_963887.2:p.Asp526Glu
NM_201596.3:c.1692C>A (CACNB2) MANE Select NP_963890.2:p.Asp564Glu
NM_201597.3:c.1620C>A (CACNB2) NP_963891.1:p.Asp540Glu