Canonical Allele Identifier: CA376072769
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

dbSNP Id: rs1195498898

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539635G>T , CM000672.2:g.18539635G>T GRCh38
NC_000010.10:g.18828564G>T , CM000672.1:g.18828564G>T GRCh37
NC_000010.9:g.18868570G>T NCBI36
NG_016195.1:g.403959G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1750G>T (CACNB2) ENSP00000366532.4:p.Asp584Tyr
ENST00000377319.9:c.1615G>T (CACNB2) ENSP00000366536.3:p.Asp539Tyr
ENST00000645287.2:c.1738G>T (CACNB2) ENSP00000496203.1:p.Asp580Tyr
ENST00000282343.13:c.1810G>T (CACNB2) ENSP00000282343.8:p.Asp604Tyr
ENST00000324631.13:c.1894G>T (CACNB2) MANE Select ENSP00000320025.8:p.Asp632Tyr
ENST00000377315.5:c.1750G>T (CACNB2) ENSP00000366532.4:p.Asp584Tyr
ENST00000377319.8:c.1615G>T (CACNB2) ENSP00000366536.3:p.Asp539Tyr
ENST00000377329.10:c.1732G>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asp578Tyr
ENST00000377331.8:c.1519G>T (CACNB2) ENSP00000366548.4:p.Asp507Tyr
ENST00000643096.2:c.1696G>T (CACNB2) ENSP00000494209.2:p.Asp566Tyr
ENST00000645287.1:c.1738G>T (CACNB2) ENSP00000496203.1:p.Asp580Tyr
ENST00000647168.2:c.*1035G>T (CACNB2) ENSP00000495854.2:n.*1035G>T
ENST00000650685.1:c.1636G>T (CACNB2) ENSP00000498460.1:p.Asp546Tyr
ENST00000651330.1:c.*1168G>T (CACNB2) ENSP00000498457.1:n.*1168G>T
ENST00000651468.1:c.1451G>T (CACNB2) ENSP00000498352.1:n.1451G>T
ENST00000651928.1:c.*1133G>T (CACNB2) ENSP00000499177.1:n.*1133G>T
ENST00000652391.1:c.1714G>T (CACNB2) ENSP00000498938.1:p.Asp572Tyr
ENST00000652478.1:c.*994G>T (CACNB2) ENSP00000498812.1:n.*994G>T
ENST00000282343.12:c.1810G>T (CACNB2) ENSP00000282343.8:p.Asp604Tyr
ENST00000324631.11:c.1894G>T (CACNB2) ENSP00000320025.7:p.Asp632Tyr
ENST00000352115.10:c.1822G>T (CACNB2) ENSP00000344474.6:p.Asp608Tyr
ENST00000377315.4:c.1750G>T (CACNB2) ENSP00000366532.4:p.Asp584Tyr
ENST00000377319.7:c.1615G>T (CACNB2) ENSP00000366536.3:p.Asp539Tyr
ENST00000377328.5:c.1144G>T (CACNB2) ENSP00000366545.1:p.Asp382Tyr
ENST00000377329.8:c.1732G>T (CACNB2) ENSP00000366546.4:p.Asp578Tyr
ENST00000377331.6:c.1738G>T (CACNB2) ENSP00000366548.2:p.Asp580Tyr
ENST00000396576.6:c.1729G>T (CACNB2) ENSP00000379821.2:p.Asp577Tyr
ENST00000612134.4:c.1598G>T (CACNB2) ENSP00000480563.1:n.1598G>T
ENST00000612743.1:c.406G>T (CACNB2) ENSP00000478676.1:p.Asp136Tyr
ENST00000615785.4:c.979G>T (CACNB2) ENSP00000480260.1:p.Asp327Tyr
ENST00000617363.4:c.1657G>T (CACNB2) ENSP00000479756.1:p.Asp553Tyr
NM_000724.3:c.1729G>T (CACNB2) NP_000715.2:p.Asp577Tyr
NM_001167945.1:c.1696G>T (CACNB2) NP_001161417.1:p.Asp566Tyr
NM_201570.2:c.1750G>T (CACNB2) NP_963864.1:p.Asp584Tyr
NM_201571.3:c.1810G>T (CACNB2) NP_963865.2:p.Asp604Tyr
NM_201572.3:c.1738G>T (CACNB2) NP_963866.2:p.Asp580Tyr
NM_201590.2:c.1732G>T (CACNB2) NP_963884.2:p.Asp578Tyr
NM_201593.2:c.1780G>T (CACNB2) NP_963887.2:p.Asp594Tyr
NM_201596.2:c.1894G>T (CACNB2) NP_963890.2:p.Asp632Tyr
NM_201597.2:c.1822G>T (CACNB2) NP_963891.1:p.Asp608Tyr
XM_005252588.2:c.1636G>T (CACNB2) XP_005252645.1:p.Asp546Tyr
XM_005252591.2:c.1054G>T (CACNB2) XP_005252648.1:p.Asp352Tyr
XM_006717502.2:c.1714G>T (CACNB2) XP_006717565.1:p.Asp572Tyr
XM_011519659.1:c.1660G>T (CACNB2) XP_011517961.1:p.Asp554Tyr
XM_011519660.1:c.1615G>T (CACNB2) XP_011517962.1:p.Asp539Tyr
NM_001330060.1:c.1615G>T (CACNB2) NP_001316989.1:p.Asp539Tyr
XM_005252588.4:c.1636G>T (CACNB2) XP_005252645.1:p.Asp546Tyr
XM_005252591.3:c.1054G>T (CACNB2) XP_005252648.1:p.Asp352Tyr
XM_006717502.3:c.1714G>T (CACNB2) XP_006717565.1:p.Asp572Tyr
XM_011519659.2:c.1660G>T (CACNB2) XP_011517961.1:p.Asp554Tyr
XM_017016625.1:c.1054G>T (CACNB2) XP_016872114.1:p.Asp352Tyr
XR_001747060.1:n.2423+2434C>A (NSUN6)
XR_001747198.1:n.2019G>T (CACNB2)
NM_000724.4:c.1729G>T (CACNB2) NP_000715.2:p.Asp577Tyr
NM_001167945.2:c.1696G>T (CACNB2) NP_001161417.1:p.Asp566Tyr
NM_001330060.2:c.1615G>T (CACNB2) NP_001316989.1:p.Asp539Tyr
NM_201570.3:c.1750G>T (CACNB2) NP_963864.1:p.Asp584Tyr
NM_201571.4:c.1810G>T (CACNB2) NP_963865.2:p.Asp604Tyr
NM_201572.4:c.1738G>T (CACNB2) NP_963866.2:p.Asp580Tyr
NM_201590.3:c.1732G>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Asp578Tyr
NM_201593.3:c.1780G>T (CACNB2) NP_963887.2:p.Asp594Tyr
NM_201596.3:c.1894G>T (CACNB2) MANE Select NP_963890.2:p.Asp632Tyr
NM_201597.3:c.1822G>T (CACNB2) NP_963891.1:p.Asp608Tyr