Canonical Allele Identifier: CA376071581
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539379T>A , CM000672.2:g.18539379T>A GRCh38
NC_000010.10:g.18828308T>A , CM000672.1:g.18828308T>A GRCh37
NC_000010.9:g.18868314T>A NCBI36
NG_016195.1:g.403703T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1494T>A (CACNB2) ENSP00000366532.4:p.Ser498Arg
ENST00000377319.9:c.1359T>A (CACNB2) ENSP00000366536.3:p.Ser453Arg
ENST00000645287.2:c.1482T>A (CACNB2) ENSP00000496203.1:p.Ser494Arg
ENST00000282343.13:c.1554T>A (CACNB2) ENSP00000282343.8:p.Ser518Arg
ENST00000324631.13:c.1638T>A (CACNB2) MANE Select ENSP00000320025.8:p.Ser546Arg
ENST00000377315.5:c.1494T>A (CACNB2) ENSP00000366532.4:p.Ser498Arg
ENST00000377319.8:c.1359T>A (CACNB2) ENSP00000366536.3:p.Ser453Arg
ENST00000377329.10:c.1476T>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ser492Arg
ENST00000377331.8:c.1263T>A (CACNB2) ENSP00000366548.4:p.Ser421Arg
ENST00000643096.2:c.1440T>A (CACNB2) ENSP00000494209.2:p.Ser480Arg
ENST00000645287.1:c.1482T>A (CACNB2) ENSP00000496203.1:p.Ser494Arg
ENST00000647168.2:c.*779T>A (CACNB2) ENSP00000495854.2:n.*779T>A
ENST00000650685.1:c.1380T>A (CACNB2) ENSP00000498460.1:p.Ser460Arg
ENST00000651330.1:c.*912T>A (CACNB2) ENSP00000498457.1:n.*912T>A
ENST00000651468.1:c.1195T>A (CACNB2) ENSP00000498352.1:n.1195T>A
ENST00000651928.1:c.*877T>A (CACNB2) ENSP00000499177.1:n.*877T>A
ENST00000652391.1:c.1458T>A (CACNB2) ENSP00000498938.1:p.Ser486Arg
ENST00000652478.1:c.*738T>A (CACNB2) ENSP00000498812.1:n.*738T>A
ENST00000282343.12:c.1554T>A (CACNB2) ENSP00000282343.8:p.Ser518Arg
ENST00000324631.11:c.1638T>A (CACNB2) ENSP00000320025.7:p.Ser546Arg
ENST00000352115.10:c.1566T>A (CACNB2) ENSP00000344474.6:p.Ser522Arg
ENST00000377315.4:c.1494T>A (CACNB2) ENSP00000366532.4:p.Ser498Arg
ENST00000377319.7:c.1359T>A (CACNB2) ENSP00000366536.3:p.Ser453Arg
ENST00000377328.5:c.888T>A (CACNB2) ENSP00000366545.1:p.Ser296Arg
ENST00000377329.8:c.1476T>A (CACNB2) ENSP00000366546.4:p.Ser492Arg
ENST00000377331.6:c.1482T>A (CACNB2) ENSP00000366548.2:p.Ser494Arg
ENST00000396576.6:c.1473T>A (CACNB2) ENSP00000379821.2:p.Ser491Arg
ENST00000612134.4:c.1342T>A (CACNB2) ENSP00000480563.1:n.1342T>A
ENST00000612743.1:c.150T>A (CACNB2) ENSP00000478676.1:p.Ser50Arg
ENST00000615785.4:c.723T>A (CACNB2) ENSP00000480260.1:p.Ser241Arg
ENST00000617363.4:c.1401T>A (CACNB2) ENSP00000479756.1:p.Ser467Arg
NM_000724.3:c.1473T>A (CACNB2) NP_000715.2:p.Ser491Arg
NM_001167945.1:c.1440T>A (CACNB2) NP_001161417.1:p.Ser480Arg
NM_201570.2:c.1494T>A (CACNB2) NP_963864.1:p.Ser498Arg
NM_201571.3:c.1554T>A (CACNB2) NP_963865.2:p.Ser518Arg
NM_201572.3:c.1482T>A (CACNB2) NP_963866.2:p.Ser494Arg
NM_201590.2:c.1476T>A (CACNB2) NP_963884.2:p.Ser492Arg
NM_201593.2:c.1524T>A (CACNB2) NP_963887.2:p.Ser508Arg
NM_201596.2:c.1638T>A (CACNB2) NP_963890.2:p.Ser546Arg
NM_201597.2:c.1566T>A (CACNB2) NP_963891.1:p.Ser522Arg
XM_005252588.2:c.1380T>A (CACNB2) XP_005252645.1:p.Ser460Arg
XM_005252591.2:c.798T>A (CACNB2) XP_005252648.1:p.Ser266Arg
XM_006717502.2:c.1458T>A (CACNB2) XP_006717565.1:p.Ser486Arg
XM_011519659.1:c.1404T>A (CACNB2) XP_011517961.1:p.Ser468Arg
XM_011519660.1:c.1359T>A (CACNB2) XP_011517962.1:p.Ser453Arg
NM_001330060.1:c.1359T>A (CACNB2) NP_001316989.1:p.Ser453Arg
XM_005252588.4:c.1380T>A (CACNB2) XP_005252645.1:p.Ser460Arg
XM_005252591.3:c.798T>A (CACNB2) XP_005252648.1:p.Ser266Arg
XM_006717502.3:c.1458T>A (CACNB2) XP_006717565.1:p.Ser486Arg
XM_011519659.2:c.1404T>A (CACNB2) XP_011517961.1:p.Ser468Arg
XM_017016625.1:c.798T>A (CACNB2) XP_016872114.1:p.Ser266Arg
XR_001747060.1:n.2423+2690A>T (NSUN6)
XR_001747198.1:n.1763T>A (CACNB2)
NM_000724.4:c.1473T>A (CACNB2) NP_000715.2:p.Ser491Arg
NM_001167945.2:c.1440T>A (CACNB2) NP_001161417.1:p.Ser480Arg
NM_001330060.2:c.1359T>A (CACNB2) NP_001316989.1:p.Ser453Arg
NM_201570.3:c.1494T>A (CACNB2) NP_963864.1:p.Ser498Arg
NM_201571.4:c.1554T>A (CACNB2) NP_963865.2:p.Ser518Arg
NM_201572.4:c.1482T>A (CACNB2) NP_963866.2:p.Ser494Arg
NM_201590.3:c.1476T>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Ser492Arg
NM_201593.3:c.1524T>A (CACNB2) NP_963887.2:p.Ser508Arg
NM_201596.3:c.1638T>A (CACNB2) MANE Select NP_963890.2:p.Ser546Arg
NM_201597.3:c.1566T>A (CACNB2) NP_963891.1:p.Ser522Arg