Canonical Allele Identifier: CA376072778
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539641T>A , CM000672.2:g.18539641T>A GRCh38
NC_000010.10:g.18828570T>A , CM000672.1:g.18828570T>A GRCh37
NC_000010.9:g.18868576T>A NCBI36
NG_016195.1:g.403965T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1756T>A (CACNB2) ENSP00000366532.4:p.Tyr586Asn
ENST00000377319.9:c.1621T>A (CACNB2) ENSP00000366536.3:p.Tyr541Asn
ENST00000645287.2:c.1744T>A (CACNB2) ENSP00000496203.1:p.Tyr582Asn
ENST00000282343.13:c.1816T>A (CACNB2) ENSP00000282343.8:p.Tyr606Asn
ENST00000324631.13:c.1900T>A (CACNB2) MANE Select ENSP00000320025.8:p.Tyr634Asn
ENST00000377315.5:c.1756T>A (CACNB2) ENSP00000366532.4:p.Tyr586Asn
ENST00000377319.8:c.1621T>A (CACNB2) ENSP00000366536.3:p.Tyr541Asn
ENST00000377329.10:c.1738T>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Tyr580Asn
ENST00000377331.8:c.1525T>A (CACNB2) ENSP00000366548.4:p.Tyr509Asn
ENST00000643096.2:c.1702T>A (CACNB2) ENSP00000494209.2:p.Tyr568Asn
ENST00000645287.1:c.1744T>A (CACNB2) ENSP00000496203.1:p.Tyr582Asn
ENST00000647168.2:c.*1041T>A (CACNB2) ENSP00000495854.2:n.*1041T>A
ENST00000650685.1:c.1642T>A (CACNB2) ENSP00000498460.1:p.Tyr548Asn
ENST00000651330.1:c.*1174T>A (CACNB2) ENSP00000498457.1:n.*1174T>A
ENST00000651468.1:c.1457T>A (CACNB2) ENSP00000498352.1:n.1457T>A
ENST00000651928.1:c.*1139T>A (CACNB2) ENSP00000499177.1:n.*1139T>A
ENST00000652391.1:c.1720T>A (CACNB2) ENSP00000498938.1:p.Tyr574Asn
ENST00000652478.1:c.*1000T>A (CACNB2) ENSP00000498812.1:n.*1000T>A
ENST00000282343.12:c.1816T>A (CACNB2) ENSP00000282343.8:p.Tyr606Asn
ENST00000324631.11:c.1900T>A (CACNB2) ENSP00000320025.7:p.Tyr634Asn
ENST00000352115.10:c.1828T>A (CACNB2) ENSP00000344474.6:p.Tyr610Asn
ENST00000377315.4:c.1756T>A (CACNB2) ENSP00000366532.4:p.Tyr586Asn
ENST00000377319.7:c.1621T>A (CACNB2) ENSP00000366536.3:p.Tyr541Asn
ENST00000377328.5:c.1150T>A (CACNB2) ENSP00000366545.1:p.Tyr384Asn
ENST00000377329.8:c.1738T>A (CACNB2) ENSP00000366546.4:p.Tyr580Asn
ENST00000377331.6:c.1744T>A (CACNB2) ENSP00000366548.2:p.Tyr582Asn
ENST00000396576.6:c.1735T>A (CACNB2) ENSP00000379821.2:p.Tyr579Asn
ENST00000612134.4:c.1604T>A (CACNB2) ENSP00000480563.1:n.1604T>A
ENST00000612743.1:c.412T>A (CACNB2) ENSP00000478676.1:p.Tyr138Asn
ENST00000615785.4:c.985T>A (CACNB2) ENSP00000480260.1:p.Tyr329Asn
ENST00000617363.4:c.1663T>A (CACNB2) ENSP00000479756.1:p.Tyr555Asn
NM_000724.3:c.1735T>A (CACNB2) NP_000715.2:p.Tyr579Asn
NM_001167945.1:c.1702T>A (CACNB2) NP_001161417.1:p.Tyr568Asn
NM_201570.2:c.1756T>A (CACNB2) NP_963864.1:p.Tyr586Asn
NM_201571.3:c.1816T>A (CACNB2) NP_963865.2:p.Tyr606Asn
NM_201572.3:c.1744T>A (CACNB2) NP_963866.2:p.Tyr582Asn
NM_201590.2:c.1738T>A (CACNB2) NP_963884.2:p.Tyr580Asn
NM_201593.2:c.1786T>A (CACNB2) NP_963887.2:p.Tyr596Asn
NM_201596.2:c.1900T>A (CACNB2) NP_963890.2:p.Tyr634Asn
NM_201597.2:c.1828T>A (CACNB2) NP_963891.1:p.Tyr610Asn
XM_005252588.2:c.1642T>A (CACNB2) XP_005252645.1:p.Tyr548Asn
XM_005252591.2:c.1060T>A (CACNB2) XP_005252648.1:p.Tyr354Asn
XM_006717502.2:c.1720T>A (CACNB2) XP_006717565.1:p.Tyr574Asn
XM_011519659.1:c.1666T>A (CACNB2) XP_011517961.1:p.Tyr556Asn
XM_011519660.1:c.1621T>A (CACNB2) XP_011517962.1:p.Tyr541Asn
NM_001330060.1:c.1621T>A (CACNB2) NP_001316989.1:p.Tyr541Asn
XM_005252588.4:c.1642T>A (CACNB2) XP_005252645.1:p.Tyr548Asn
XM_005252591.3:c.1060T>A (CACNB2) XP_005252648.1:p.Tyr354Asn
XM_006717502.3:c.1720T>A (CACNB2) XP_006717565.1:p.Tyr574Asn
XM_011519659.2:c.1666T>A (CACNB2) XP_011517961.1:p.Tyr556Asn
XM_017016625.1:c.1060T>A (CACNB2) XP_016872114.1:p.Tyr354Asn
XR_001747060.1:n.2423+2428A>T (NSUN6)
XR_001747198.1:n.2025T>A (CACNB2)
NM_000724.4:c.1735T>A (CACNB2) NP_000715.2:p.Tyr579Asn
NM_001167945.2:c.1702T>A (CACNB2) NP_001161417.1:p.Tyr568Asn
NM_001330060.2:c.1621T>A (CACNB2) NP_001316989.1:p.Tyr541Asn
NM_201570.3:c.1756T>A (CACNB2) NP_963864.1:p.Tyr586Asn
NM_201571.4:c.1816T>A (CACNB2) NP_963865.2:p.Tyr606Asn
NM_201572.4:c.1744T>A (CACNB2) NP_963866.2:p.Tyr582Asn
NM_201590.3:c.1738T>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Tyr580Asn
NM_201593.3:c.1786T>A (CACNB2) NP_963887.2:p.Tyr596Asn
NM_201596.3:c.1900T>A (CACNB2) MANE Select NP_963890.2:p.Tyr634Asn
NM_201597.3:c.1828T>A (CACNB2) NP_963891.1:p.Tyr610Asn