Canonical Allele Identifier: CA376071703
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539414A>T , CM000672.2:g.18539414A>T GRCh38
NC_000010.10:g.18828343A>T , CM000672.1:g.18828343A>T GRCh37
NC_000010.9:g.18868349A>T NCBI36
NG_016195.1:g.403738A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1529A>T (CACNB2) ENSP00000366532.4:p.Glu510Val
ENST00000377319.9:c.1394A>T (CACNB2) ENSP00000366536.3:p.Glu465Val
ENST00000645287.2:c.1517A>T (CACNB2) ENSP00000496203.1:p.Glu506Val
ENST00000282343.13:c.1589A>T (CACNB2) ENSP00000282343.8:p.Glu530Val
ENST00000324631.13:c.1673A>T (CACNB2) MANE Select ENSP00000320025.8:p.Glu558Val
ENST00000377315.5:c.1529A>T (CACNB2) ENSP00000366532.4:p.Glu510Val
ENST00000377319.8:c.1394A>T (CACNB2) ENSP00000366536.3:p.Glu465Val
ENST00000377329.10:c.1511A>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Glu504Val
ENST00000377331.8:c.1298A>T (CACNB2) ENSP00000366548.4:p.Glu433Val
ENST00000643096.2:c.1475A>T (CACNB2) ENSP00000494209.2:p.Glu492Val
ENST00000645287.1:c.1517A>T (CACNB2) ENSP00000496203.1:p.Glu506Val
ENST00000647168.2:c.*814A>T (CACNB2) ENSP00000495854.2:n.*814A>T
ENST00000650685.1:c.1415A>T (CACNB2) ENSP00000498460.1:p.Glu472Val
ENST00000651330.1:c.*947A>T (CACNB2) ENSP00000498457.1:n.*947A>T
ENST00000651468.1:c.1230A>T (CACNB2) ENSP00000498352.1:n.1230A>T
ENST00000651928.1:c.*912A>T (CACNB2) ENSP00000499177.1:n.*912A>T
ENST00000652391.1:c.1493A>T (CACNB2) ENSP00000498938.1:p.Glu498Val
ENST00000652478.1:c.*773A>T (CACNB2) ENSP00000498812.1:n.*773A>T
ENST00000282343.12:c.1589A>T (CACNB2) ENSP00000282343.8:p.Glu530Val
ENST00000324631.11:c.1673A>T (CACNB2) ENSP00000320025.7:p.Glu558Val
ENST00000352115.10:c.1601A>T (CACNB2) ENSP00000344474.6:p.Glu534Val
ENST00000377315.4:c.1529A>T (CACNB2) ENSP00000366532.4:p.Glu510Val
ENST00000377319.7:c.1394A>T (CACNB2) ENSP00000366536.3:p.Glu465Val
ENST00000377328.5:c.923A>T (CACNB2) ENSP00000366545.1:p.Glu308Val
ENST00000377329.8:c.1511A>T (CACNB2) ENSP00000366546.4:p.Glu504Val
ENST00000377331.6:c.1517A>T (CACNB2) ENSP00000366548.2:p.Glu506Val
ENST00000396576.6:c.1508A>T (CACNB2) ENSP00000379821.2:p.Glu503Val
ENST00000612134.4:c.1377A>T (CACNB2) ENSP00000480563.1:n.1377A>T
ENST00000612743.1:c.185A>T (CACNB2) ENSP00000478676.1:p.Glu62Val
ENST00000615785.4:c.758A>T (CACNB2) ENSP00000480260.1:p.Glu253Val
ENST00000617363.4:c.1436A>T (CACNB2) ENSP00000479756.1:p.Glu479Val
NM_000724.3:c.1508A>T (CACNB2) NP_000715.2:p.Glu503Val
NM_001167945.1:c.1475A>T (CACNB2) NP_001161417.1:p.Glu492Val
NM_201570.2:c.1529A>T (CACNB2) NP_963864.1:p.Glu510Val
NM_201571.3:c.1589A>T (CACNB2) NP_963865.2:p.Glu530Val
NM_201572.3:c.1517A>T (CACNB2) NP_963866.2:p.Glu506Val
NM_201590.2:c.1511A>T (CACNB2) NP_963884.2:p.Glu504Val
NM_201593.2:c.1559A>T (CACNB2) NP_963887.2:p.Glu520Val
NM_201596.2:c.1673A>T (CACNB2) NP_963890.2:p.Glu558Val
NM_201597.2:c.1601A>T (CACNB2) NP_963891.1:p.Glu534Val
XM_005252588.2:c.1415A>T (CACNB2) XP_005252645.1:p.Glu472Val
XM_005252591.2:c.833A>T (CACNB2) XP_005252648.1:p.Glu278Val
XM_006717502.2:c.1493A>T (CACNB2) XP_006717565.1:p.Glu498Val
XM_011519659.1:c.1439A>T (CACNB2) XP_011517961.1:p.Glu480Val
XM_011519660.1:c.1394A>T (CACNB2) XP_011517962.1:p.Glu465Val
NM_001330060.1:c.1394A>T (CACNB2) NP_001316989.1:p.Glu465Val
XM_005252588.4:c.1415A>T (CACNB2) XP_005252645.1:p.Glu472Val
XM_005252591.3:c.833A>T (CACNB2) XP_005252648.1:p.Glu278Val
XM_006717502.3:c.1493A>T (CACNB2) XP_006717565.1:p.Glu498Val
XM_011519659.2:c.1439A>T (CACNB2) XP_011517961.1:p.Glu480Val
XM_017016625.1:c.833A>T (CACNB2) XP_016872114.1:p.Glu278Val
XR_001747060.1:n.2423+2655T>A (NSUN6)
XR_001747198.1:n.1798A>T (CACNB2)
NM_000724.4:c.1508A>T (CACNB2) NP_000715.2:p.Glu503Val
NM_001167945.2:c.1475A>T (CACNB2) NP_001161417.1:p.Glu492Val
NM_001330060.2:c.1394A>T (CACNB2) NP_001316989.1:p.Glu465Val
NM_201570.3:c.1529A>T (CACNB2) NP_963864.1:p.Glu510Val
NM_201571.4:c.1589A>T (CACNB2) NP_963865.2:p.Glu530Val
NM_201572.4:c.1517A>T (CACNB2) NP_963866.2:p.Glu506Val
NM_201590.3:c.1511A>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Glu504Val
NM_201593.3:c.1559A>T (CACNB2) NP_963887.2:p.Glu520Val
NM_201596.3:c.1673A>T (CACNB2) MANE Select NP_963890.2:p.Glu558Val
NM_201597.3:c.1601A>T (CACNB2) NP_963891.1:p.Glu534Val