Canonical Allele Identifier: CA376071557
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539371G>T , CM000672.2:g.18539371G>T GRCh38
NC_000010.10:g.18828300G>T , CM000672.1:g.18828300G>T GRCh37
NC_000010.9:g.18868306G>T NCBI36
NG_016195.1:g.403695G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1486G>T (CACNB2) ENSP00000366532.4:p.Gly496Trp
ENST00000377319.9:c.1351G>T (CACNB2) ENSP00000366536.3:p.Gly451Trp
ENST00000645287.2:c.1474G>T (CACNB2) ENSP00000496203.1:p.Gly492Trp
ENST00000282343.13:c.1546G>T (CACNB2) ENSP00000282343.8:p.Gly516Trp
ENST00000324631.13:c.1630G>T (CACNB2) MANE Select ENSP00000320025.8:p.Gly544Trp
ENST00000377315.5:c.1486G>T (CACNB2) ENSP00000366532.4:p.Gly496Trp
ENST00000377319.8:c.1351G>T (CACNB2) ENSP00000366536.3:p.Gly451Trp
ENST00000377329.10:c.1468G>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Gly490Trp
ENST00000377331.8:c.1255G>T (CACNB2) ENSP00000366548.4:p.Gly419Trp
ENST00000643096.2:c.1432G>T (CACNB2) ENSP00000494209.2:p.Gly478Trp
ENST00000645287.1:c.1474G>T (CACNB2) ENSP00000496203.1:p.Gly492Trp
ENST00000647168.2:c.*771G>T (CACNB2) ENSP00000495854.2:n.*771G>T
ENST00000650685.1:c.1372G>T (CACNB2) ENSP00000498460.1:p.Gly458Trp
ENST00000651330.1:c.*904G>T (CACNB2) ENSP00000498457.1:n.*904G>T
ENST00000651468.1:c.1187G>T (CACNB2) ENSP00000498352.1:n.1187G>T
ENST00000651928.1:c.*869G>T (CACNB2) ENSP00000499177.1:n.*869G>T
ENST00000652391.1:c.1450G>T (CACNB2) ENSP00000498938.1:p.Gly484Trp
ENST00000652478.1:c.*730G>T (CACNB2) ENSP00000498812.1:n.*730G>T
ENST00000282343.12:c.1546G>T (CACNB2) ENSP00000282343.8:p.Gly516Trp
ENST00000324631.11:c.1630G>T (CACNB2) ENSP00000320025.7:p.Gly544Trp
ENST00000352115.10:c.1558G>T (CACNB2) ENSP00000344474.6:p.Gly520Trp
ENST00000377315.4:c.1486G>T (CACNB2) ENSP00000366532.4:p.Gly496Trp
ENST00000377319.7:c.1351G>T (CACNB2) ENSP00000366536.3:p.Gly451Trp
ENST00000377328.5:c.880G>T (CACNB2) ENSP00000366545.1:p.Gly294Trp
ENST00000377329.8:c.1468G>T (CACNB2) ENSP00000366546.4:p.Gly490Trp
ENST00000377331.6:c.1474G>T (CACNB2) ENSP00000366548.2:p.Gly492Trp
ENST00000396576.6:c.1465G>T (CACNB2) ENSP00000379821.2:p.Gly489Trp
ENST00000612134.4:c.1334G>T (CACNB2) ENSP00000480563.1:n.1334G>T
ENST00000612743.1:c.142G>T (CACNB2) ENSP00000478676.1:p.Gly48Trp
ENST00000615785.4:c.715G>T (CACNB2) ENSP00000480260.1:p.Gly239Trp
ENST00000617363.4:c.1393G>T (CACNB2) ENSP00000479756.1:p.Gly465Trp
NM_000724.3:c.1465G>T (CACNB2) NP_000715.2:p.Gly489Trp
NM_001167945.1:c.1432G>T (CACNB2) NP_001161417.1:p.Gly478Trp
NM_201570.2:c.1486G>T (CACNB2) NP_963864.1:p.Gly496Trp
NM_201571.3:c.1546G>T (CACNB2) NP_963865.2:p.Gly516Trp
NM_201572.3:c.1474G>T (CACNB2) NP_963866.2:p.Gly492Trp
NM_201590.2:c.1468G>T (CACNB2) NP_963884.2:p.Gly490Trp
NM_201593.2:c.1516G>T (CACNB2) NP_963887.2:p.Gly506Trp
NM_201596.2:c.1630G>T (CACNB2) NP_963890.2:p.Gly544Trp
NM_201597.2:c.1558G>T (CACNB2) NP_963891.1:p.Gly520Trp
XM_005252588.2:c.1372G>T (CACNB2) XP_005252645.1:p.Gly458Trp
XM_005252591.2:c.790G>T (CACNB2) XP_005252648.1:p.Gly264Trp
XM_006717502.2:c.1450G>T (CACNB2) XP_006717565.1:p.Gly484Trp
XM_011519659.1:c.1396G>T (CACNB2) XP_011517961.1:p.Gly466Trp
XM_011519660.1:c.1351G>T (CACNB2) XP_011517962.1:p.Gly451Trp
NM_001330060.1:c.1351G>T (CACNB2) NP_001316989.1:p.Gly451Trp
XM_005252588.4:c.1372G>T (CACNB2) XP_005252645.1:p.Gly458Trp
XM_005252591.3:c.790G>T (CACNB2) XP_005252648.1:p.Gly264Trp
XM_006717502.3:c.1450G>T (CACNB2) XP_006717565.1:p.Gly484Trp
XM_011519659.2:c.1396G>T (CACNB2) XP_011517961.1:p.Gly466Trp
XM_017016625.1:c.790G>T (CACNB2) XP_016872114.1:p.Gly264Trp
XR_001747060.1:n.2423+2698C>A (NSUN6)
XR_001747198.1:n.1755G>T (CACNB2)
NM_000724.4:c.1465G>T (CACNB2) NP_000715.2:p.Gly489Trp
NM_001167945.2:c.1432G>T (CACNB2) NP_001161417.1:p.Gly478Trp
NM_001330060.2:c.1351G>T (CACNB2) NP_001316989.1:p.Gly451Trp
NM_201570.3:c.1486G>T (CACNB2) NP_963864.1:p.Gly496Trp
NM_201571.4:c.1546G>T (CACNB2) NP_963865.2:p.Gly516Trp
NM_201572.4:c.1474G>T (CACNB2) NP_963866.2:p.Gly492Trp
NM_201590.3:c.1468G>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Gly490Trp
NM_201593.3:c.1516G>T (CACNB2) NP_963887.2:p.Gly506Trp
NM_201596.3:c.1630G>T (CACNB2) MANE Select NP_963890.2:p.Gly544Trp
NM_201597.3:c.1558G>T (CACNB2) NP_963891.1:p.Gly520Trp