Canonical Allele Identifier: CA376071664
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539405T>A , CM000672.2:g.18539405T>A GRCh38
NC_000010.10:g.18828334T>A , CM000672.1:g.18828334T>A GRCh37
NC_000010.9:g.18868340T>A NCBI36
NG_016195.1:g.403729T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1520T>A (CACNB2) ENSP00000366532.4:p.Phe507Tyr
ENST00000377319.9:c.1385T>A (CACNB2) ENSP00000366536.3:p.Phe462Tyr
ENST00000645287.2:c.1508T>A (CACNB2) ENSP00000496203.1:p.Phe503Tyr
ENST00000282343.13:c.1580T>A (CACNB2) ENSP00000282343.8:p.Phe527Tyr
ENST00000324631.13:c.1664T>A (CACNB2) MANE Select ENSP00000320025.8:p.Phe555Tyr
ENST00000377315.5:c.1520T>A (CACNB2) ENSP00000366532.4:p.Phe507Tyr
ENST00000377319.8:c.1385T>A (CACNB2) ENSP00000366536.3:p.Phe462Tyr
ENST00000377329.10:c.1502T>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Phe501Tyr
ENST00000377331.8:c.1289T>A (CACNB2) ENSP00000366548.4:p.Phe430Tyr
ENST00000643096.2:c.1466T>A (CACNB2) ENSP00000494209.2:p.Phe489Tyr
ENST00000645287.1:c.1508T>A (CACNB2) ENSP00000496203.1:p.Phe503Tyr
ENST00000647168.2:c.*805T>A (CACNB2) ENSP00000495854.2:n.*805T>A
ENST00000650685.1:c.1406T>A (CACNB2) ENSP00000498460.1:p.Phe469Tyr
ENST00000651330.1:c.*938T>A (CACNB2) ENSP00000498457.1:n.*938T>A
ENST00000651468.1:c.1221T>A (CACNB2) ENSP00000498352.1:n.1221T>A
ENST00000651928.1:c.*903T>A (CACNB2) ENSP00000499177.1:n.*903T>A
ENST00000652391.1:c.1484T>A (CACNB2) ENSP00000498938.1:p.Phe495Tyr
ENST00000652478.1:c.*764T>A (CACNB2) ENSP00000498812.1:n.*764T>A
ENST00000282343.12:c.1580T>A (CACNB2) ENSP00000282343.8:p.Phe527Tyr
ENST00000324631.11:c.1664T>A (CACNB2) ENSP00000320025.7:p.Phe555Tyr
ENST00000352115.10:c.1592T>A (CACNB2) ENSP00000344474.6:p.Phe531Tyr
ENST00000377315.4:c.1520T>A (CACNB2) ENSP00000366532.4:p.Phe507Tyr
ENST00000377319.7:c.1385T>A (CACNB2) ENSP00000366536.3:p.Phe462Tyr
ENST00000377328.5:c.914T>A (CACNB2) ENSP00000366545.1:p.Phe305Tyr
ENST00000377329.8:c.1502T>A (CACNB2) ENSP00000366546.4:p.Phe501Tyr
ENST00000377331.6:c.1508T>A (CACNB2) ENSP00000366548.2:p.Phe503Tyr
ENST00000396576.6:c.1499T>A (CACNB2) ENSP00000379821.2:p.Phe500Tyr
ENST00000612134.4:c.1368T>A (CACNB2) ENSP00000480563.1:n.1368T>A
ENST00000612743.1:c.176T>A (CACNB2) ENSP00000478676.1:p.Phe59Tyr
ENST00000615785.4:c.749T>A (CACNB2) ENSP00000480260.1:p.Phe250Tyr
ENST00000617363.4:c.1427T>A (CACNB2) ENSP00000479756.1:p.Phe476Tyr
NM_000724.3:c.1499T>A (CACNB2) NP_000715.2:p.Phe500Tyr
NM_001167945.1:c.1466T>A (CACNB2) NP_001161417.1:p.Phe489Tyr
NM_201570.2:c.1520T>A (CACNB2) NP_963864.1:p.Phe507Tyr
NM_201571.3:c.1580T>A (CACNB2) NP_963865.2:p.Phe527Tyr
NM_201572.3:c.1508T>A (CACNB2) NP_963866.2:p.Phe503Tyr
NM_201590.2:c.1502T>A (CACNB2) NP_963884.2:p.Phe501Tyr
NM_201593.2:c.1550T>A (CACNB2) NP_963887.2:p.Phe517Tyr
NM_201596.2:c.1664T>A (CACNB2) NP_963890.2:p.Phe555Tyr
NM_201597.2:c.1592T>A (CACNB2) NP_963891.1:p.Phe531Tyr
XM_005252588.2:c.1406T>A (CACNB2) XP_005252645.1:p.Phe469Tyr
XM_005252591.2:c.824T>A (CACNB2) XP_005252648.1:p.Phe275Tyr
XM_006717502.2:c.1484T>A (CACNB2) XP_006717565.1:p.Phe495Tyr
XM_011519659.1:c.1430T>A (CACNB2) XP_011517961.1:p.Phe477Tyr
XM_011519660.1:c.1385T>A (CACNB2) XP_011517962.1:p.Phe462Tyr
NM_001330060.1:c.1385T>A (CACNB2) NP_001316989.1:p.Phe462Tyr
XM_005252588.4:c.1406T>A (CACNB2) XP_005252645.1:p.Phe469Tyr
XM_005252591.3:c.824T>A (CACNB2) XP_005252648.1:p.Phe275Tyr
XM_006717502.3:c.1484T>A (CACNB2) XP_006717565.1:p.Phe495Tyr
XM_011519659.2:c.1430T>A (CACNB2) XP_011517961.1:p.Phe477Tyr
XM_017016625.1:c.824T>A (CACNB2) XP_016872114.1:p.Phe275Tyr
XR_001747060.1:n.2423+2664A>T (NSUN6)
XR_001747198.1:n.1789T>A (CACNB2)
NM_000724.4:c.1499T>A (CACNB2) NP_000715.2:p.Phe500Tyr
NM_001167945.2:c.1466T>A (CACNB2) NP_001161417.1:p.Phe489Tyr
NM_001330060.2:c.1385T>A (CACNB2) NP_001316989.1:p.Phe462Tyr
NM_201570.3:c.1520T>A (CACNB2) NP_963864.1:p.Phe507Tyr
NM_201571.4:c.1580T>A (CACNB2) NP_963865.2:p.Phe527Tyr
NM_201572.4:c.1508T>A (CACNB2) NP_963866.2:p.Phe503Tyr
NM_201590.3:c.1502T>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Phe501Tyr
NM_201593.3:c.1550T>A (CACNB2) NP_963887.2:p.Phe517Tyr
NM_201596.3:c.1664T>A (CACNB2) MANE Select NP_963890.2:p.Phe555Tyr
NM_201597.3:c.1592T>A (CACNB2) NP_963891.1:p.Phe531Tyr