Canonical Allele Identifier: CA376071635
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539396A>T , CM000672.2:g.18539396A>T GRCh38
NC_000010.10:g.18828325A>T , CM000672.1:g.18828325A>T GRCh37
NC_000010.9:g.18868331A>T NCBI36
NG_016195.1:g.403720A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1511A>T (CACNB2) ENSP00000366532.4:p.Gln504Leu
ENST00000377319.9:c.1376A>T (CACNB2) ENSP00000366536.3:p.Gln459Leu
ENST00000645287.2:c.1499A>T (CACNB2) ENSP00000496203.1:p.Gln500Leu
ENST00000282343.13:c.1571A>T (CACNB2) ENSP00000282343.8:p.Gln524Leu
ENST00000324631.13:c.1655A>T (CACNB2) MANE Select ENSP00000320025.8:p.Gln552Leu
ENST00000377315.5:c.1511A>T (CACNB2) ENSP00000366532.4:p.Gln504Leu
ENST00000377319.8:c.1376A>T (CACNB2) ENSP00000366536.3:p.Gln459Leu
ENST00000377329.10:c.1493A>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Gln498Leu
ENST00000377331.8:c.1280A>T (CACNB2) ENSP00000366548.4:p.Gln427Leu
ENST00000643096.2:c.1457A>T (CACNB2) ENSP00000494209.2:p.Gln486Leu
ENST00000645287.1:c.1499A>T (CACNB2) ENSP00000496203.1:p.Gln500Leu
ENST00000647168.2:c.*796A>T (CACNB2) ENSP00000495854.2:n.*796A>T
ENST00000650685.1:c.1397A>T (CACNB2) ENSP00000498460.1:p.Gln466Leu
ENST00000651330.1:c.*929A>T (CACNB2) ENSP00000498457.1:n.*929A>T
ENST00000651468.1:c.1212A>T (CACNB2) ENSP00000498352.1:n.1212A>T
ENST00000651928.1:c.*894A>T (CACNB2) ENSP00000499177.1:n.*894A>T
ENST00000652391.1:c.1475A>T (CACNB2) ENSP00000498938.1:p.Gln492Leu
ENST00000652478.1:c.*755A>T (CACNB2) ENSP00000498812.1:n.*755A>T
ENST00000282343.12:c.1571A>T (CACNB2) ENSP00000282343.8:p.Gln524Leu
ENST00000324631.11:c.1655A>T (CACNB2) ENSP00000320025.7:p.Gln552Leu
ENST00000352115.10:c.1583A>T (CACNB2) ENSP00000344474.6:p.Gln528Leu
ENST00000377315.4:c.1511A>T (CACNB2) ENSP00000366532.4:p.Gln504Leu
ENST00000377319.7:c.1376A>T (CACNB2) ENSP00000366536.3:p.Gln459Leu
ENST00000377328.5:c.905A>T (CACNB2) ENSP00000366545.1:p.Gln302Leu
ENST00000377329.8:c.1493A>T (CACNB2) ENSP00000366546.4:p.Gln498Leu
ENST00000377331.6:c.1499A>T (CACNB2) ENSP00000366548.2:p.Gln500Leu
ENST00000396576.6:c.1490A>T (CACNB2) ENSP00000379821.2:p.Gln497Leu
ENST00000612134.4:c.1359A>T (CACNB2) ENSP00000480563.1:n.1359A>T
ENST00000612743.1:c.167A>T (CACNB2) ENSP00000478676.1:p.Gln56Leu
ENST00000615785.4:c.740A>T (CACNB2) ENSP00000480260.1:p.Gln247Leu
ENST00000617363.4:c.1418A>T (CACNB2) ENSP00000479756.1:p.Gln473Leu
NM_000724.3:c.1490A>T (CACNB2) NP_000715.2:p.Gln497Leu
NM_001167945.1:c.1457A>T (CACNB2) NP_001161417.1:p.Gln486Leu
NM_201570.2:c.1511A>T (CACNB2) NP_963864.1:p.Gln504Leu
NM_201571.3:c.1571A>T (CACNB2) NP_963865.2:p.Gln524Leu
NM_201572.3:c.1499A>T (CACNB2) NP_963866.2:p.Gln500Leu
NM_201590.2:c.1493A>T (CACNB2) NP_963884.2:p.Gln498Leu
NM_201593.2:c.1541A>T (CACNB2) NP_963887.2:p.Gln514Leu
NM_201596.2:c.1655A>T (CACNB2) NP_963890.2:p.Gln552Leu
NM_201597.2:c.1583A>T (CACNB2) NP_963891.1:p.Gln528Leu
XM_005252588.2:c.1397A>T (CACNB2) XP_005252645.1:p.Gln466Leu
XM_005252591.2:c.815A>T (CACNB2) XP_005252648.1:p.Gln272Leu
XM_006717502.2:c.1475A>T (CACNB2) XP_006717565.1:p.Gln492Leu
XM_011519659.1:c.1421A>T (CACNB2) XP_011517961.1:p.Gln474Leu
XM_011519660.1:c.1376A>T (CACNB2) XP_011517962.1:p.Gln459Leu
NM_001330060.1:c.1376A>T (CACNB2) NP_001316989.1:p.Gln459Leu
XM_005252588.4:c.1397A>T (CACNB2) XP_005252645.1:p.Gln466Leu
XM_005252591.3:c.815A>T (CACNB2) XP_005252648.1:p.Gln272Leu
XM_006717502.3:c.1475A>T (CACNB2) XP_006717565.1:p.Gln492Leu
XM_011519659.2:c.1421A>T (CACNB2) XP_011517961.1:p.Gln474Leu
XM_017016625.1:c.815A>T (CACNB2) XP_016872114.1:p.Gln272Leu
XR_001747060.1:n.2423+2673T>A (NSUN6)
XR_001747198.1:n.1780A>T (CACNB2)
NM_000724.4:c.1490A>T (CACNB2) NP_000715.2:p.Gln497Leu
NM_001167945.2:c.1457A>T (CACNB2) NP_001161417.1:p.Gln486Leu
NM_001330060.2:c.1376A>T (CACNB2) NP_001316989.1:p.Gln459Leu
NM_201570.3:c.1511A>T (CACNB2) NP_963864.1:p.Gln504Leu
NM_201571.4:c.1571A>T (CACNB2) NP_963865.2:p.Gln524Leu
NM_201572.4:c.1499A>T (CACNB2) NP_963866.2:p.Gln500Leu
NM_201590.3:c.1493A>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Gln498Leu
NM_201593.3:c.1541A>T (CACNB2) NP_963887.2:p.Gln514Leu
NM_201596.3:c.1655A>T (CACNB2) MANE Select NP_963890.2:p.Gln552Leu
NM_201597.3:c.1583A>T (CACNB2) NP_963891.1:p.Gln528Leu