Canonical Allele Identifier: CA376072764
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

dbSNP Id: rs200613235

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539632A>T , CM000672.2:g.18539632A>T GRCh38
NC_000010.10:g.18828561A>T , CM000672.1:g.18828561A>T GRCh37
NC_000010.9:g.18868567A>T NCBI36
NG_016195.1:g.403956A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1747A>T (CACNB2) ENSP00000366532.4:p.Lys583Ter
ENST00000377319.9:c.1612A>T (CACNB2) ENSP00000366536.3:p.Lys538Ter
ENST00000645287.2:c.1735A>T (CACNB2) ENSP00000496203.1:p.Lys579Ter
ENST00000282343.13:c.1807A>T (CACNB2) ENSP00000282343.8:p.Lys603Ter
ENST00000324631.13:c.1891A>T (CACNB2) MANE Select ENSP00000320025.8:p.Lys631Ter
ENST00000377315.5:c.1747A>T (CACNB2) ENSP00000366532.4:p.Lys583Ter
ENST00000377319.8:c.1612A>T (CACNB2) ENSP00000366536.3:p.Lys538Ter
ENST00000377329.10:c.1729A>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Lys577Ter
ENST00000377331.8:c.1516A>T (CACNB2) ENSP00000366548.4:p.Lys506Ter
ENST00000643096.2:c.1693A>T (CACNB2) ENSP00000494209.2:p.Lys565Ter
ENST00000645287.1:c.1735A>T (CACNB2) ENSP00000496203.1:p.Lys579Ter
ENST00000647168.2:c.*1032A>T (CACNB2) ENSP00000495854.2:n.*1032A>T
ENST00000650685.1:c.1633A>T (CACNB2) ENSP00000498460.1:p.Lys545Ter
ENST00000651330.1:c.*1165A>T (CACNB2) ENSP00000498457.1:n.*1165A>T
ENST00000651468.1:c.1448A>T (CACNB2) ENSP00000498352.1:n.1448A>T
ENST00000651928.1:c.*1130A>T (CACNB2) ENSP00000499177.1:n.*1130A>T
ENST00000652391.1:c.1711A>T (CACNB2) ENSP00000498938.1:p.Lys571Ter
ENST00000652478.1:c.*991A>T (CACNB2) ENSP00000498812.1:n.*991A>T
ENST00000282343.12:c.1807A>T (CACNB2) ENSP00000282343.8:p.Lys603Ter
ENST00000324631.11:c.1891A>T (CACNB2) ENSP00000320025.7:p.Lys631Ter
ENST00000352115.10:c.1819A>T (CACNB2) ENSP00000344474.6:p.Lys607Ter
ENST00000377315.4:c.1747A>T (CACNB2) ENSP00000366532.4:p.Lys583Ter
ENST00000377319.7:c.1612A>T (CACNB2) ENSP00000366536.3:p.Lys538Ter
ENST00000377328.5:c.1141A>T (CACNB2) ENSP00000366545.1:p.Lys381Ter
ENST00000377329.8:c.1729A>T (CACNB2) ENSP00000366546.4:p.Lys577Ter
ENST00000377331.6:c.1735A>T (CACNB2) ENSP00000366548.2:p.Lys579Ter
ENST00000396576.6:c.1726A>T (CACNB2) ENSP00000379821.2:p.Lys576Ter
ENST00000612134.4:c.1595A>T (CACNB2) ENSP00000480563.1:n.1595A>T
ENST00000612743.1:c.403A>T (CACNB2) ENSP00000478676.1:p.Lys135Ter
ENST00000615785.4:c.976A>T (CACNB2) ENSP00000480260.1:p.Lys326Ter
ENST00000617363.4:c.1654A>T (CACNB2) ENSP00000479756.1:p.Lys552Ter
NM_000724.3:c.1726A>T (CACNB2) NP_000715.2:p.Lys576Ter
NM_001167945.1:c.1693A>T (CACNB2) NP_001161417.1:p.Lys565Ter
NM_201570.2:c.1747A>T (CACNB2) NP_963864.1:p.Lys583Ter
NM_201571.3:c.1807A>T (CACNB2) NP_963865.2:p.Lys603Ter
NM_201572.3:c.1735A>T (CACNB2) NP_963866.2:p.Lys579Ter
NM_201590.2:c.1729A>T (CACNB2) NP_963884.2:p.Lys577Ter
NM_201593.2:c.1777A>T (CACNB2) NP_963887.2:p.Lys593Ter
NM_201596.2:c.1891A>T (CACNB2) NP_963890.2:p.Lys631Ter
NM_201597.2:c.1819A>T (CACNB2) NP_963891.1:p.Lys607Ter
XM_005252588.2:c.1633A>T (CACNB2) XP_005252645.1:p.Lys545Ter
XM_005252591.2:c.1051A>T (CACNB2) XP_005252648.1:p.Lys351Ter
XM_006717502.2:c.1711A>T (CACNB2) XP_006717565.1:p.Lys571Ter
XM_011519659.1:c.1657A>T (CACNB2) XP_011517961.1:p.Lys553Ter
XM_011519660.1:c.1612A>T (CACNB2) XP_011517962.1:p.Lys538Ter
NM_001330060.1:c.1612A>T (CACNB2) NP_001316989.1:p.Lys538Ter
XM_005252588.4:c.1633A>T (CACNB2) XP_005252645.1:p.Lys545Ter
XM_005252591.3:c.1051A>T (CACNB2) XP_005252648.1:p.Lys351Ter
XM_006717502.3:c.1711A>T (CACNB2) XP_006717565.1:p.Lys571Ter
XM_011519659.2:c.1657A>T (CACNB2) XP_011517961.1:p.Lys553Ter
XM_017016625.1:c.1051A>T (CACNB2) XP_016872114.1:p.Lys351Ter
XR_001747060.1:n.2423+2437T>A (NSUN6)
XR_001747198.1:n.2016A>T (CACNB2)
NM_000724.4:c.1726A>T (CACNB2) NP_000715.2:p.Lys576Ter
NM_001167945.2:c.1693A>T (CACNB2) NP_001161417.1:p.Lys565Ter
NM_001330060.2:c.1612A>T (CACNB2) NP_001316989.1:p.Lys538Ter
NM_201570.3:c.1747A>T (CACNB2) NP_963864.1:p.Lys583Ter
NM_201571.4:c.1807A>T (CACNB2) NP_963865.2:p.Lys603Ter
NM_201572.4:c.1735A>T (CACNB2) NP_963866.2:p.Lys579Ter
NM_201590.3:c.1729A>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Lys577Ter
NM_201593.3:c.1777A>T (CACNB2) NP_963887.2:p.Lys593Ter
NM_201596.3:c.1891A>T (CACNB2) MANE Select NP_963890.2:p.Lys631Ter
NM_201597.3:c.1819A>T (CACNB2) NP_963891.1:p.Lys607Ter