Canonical Allele Identifier: CA2557146910
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539391del , CM000672.2:g.18539391del GRCh38
NC_000010.10:g.18828320del , CM000672.1:g.18828320del GRCh37
NC_000010.9:g.18868326del NCBI36
NG_016195.1:g.403715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1506del (CACNB2) ENSP00000366532.4:p.Arg503GlyfsTer18
ENST00000377319.9:c.1371del (CACNB2) ENSP00000366536.3:p.Arg458GlyfsTer18
ENST00000645287.2:c.1494del (CACNB2) ENSP00000496203.1:p.Arg499GlyfsTer18
ENST00000282343.13:c.1566del (CACNB2) ENSP00000282343.8:p.Arg523GlyfsTer18
ENST00000324631.13:c.1650del (CACNB2) MANE Select ENSP00000320025.8:p.Arg551GlyfsTer18
ENST00000377315.5:c.1506del (CACNB2) ENSP00000366532.4:p.Arg503GlyfsTer18
ENST00000377319.8:c.1371del (CACNB2) ENSP00000366536.3:p.Arg458GlyfsTer18
ENST00000377329.10:c.1488del (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Arg497GlyfsTer18
ENST00000377331.8:c.1275del (CACNB2) ENSP00000366548.4:p.Arg426GlyfsTer18
ENST00000643096.2:c.1452del (CACNB2) ENSP00000494209.2:p.Arg485GlyfsTer18
ENST00000645287.1:c.1494del (CACNB2) ENSP00000496203.1:p.Arg499GlyfsTer18
ENST00000647168.2:c.*791del (CACNB2) ENSP00000495854.2:n.*791del
ENST00000650685.1:c.1392del (CACNB2) ENSP00000498460.1:p.Arg465GlyfsTer18
ENST00000651330.1:c.*924del (CACNB2) ENSP00000498457.1:n.*924del
ENST00000651468.1:c.1207del (CACNB2) ENSP00000498352.1:n.1207del
ENST00000651928.1:c.*889del (CACNB2) ENSP00000499177.1:n.*889del
ENST00000652391.1:c.1470del (CACNB2) ENSP00000498938.1:p.Arg491GlyfsTer18
ENST00000652478.1:c.*750del (CACNB2) ENSP00000498812.1:n.*750del
ENST00000282343.12:c.1566del (CACNB2) ENSP00000282343.8:p.Arg523GlyfsTer18
ENST00000324631.11:c.1650del (CACNB2) ENSP00000320025.7:p.Arg551GlyfsTer18
ENST00000352115.10:c.1578del (CACNB2) ENSP00000344474.6:p.Arg527GlyfsTer18
ENST00000377315.4:c.1506del (CACNB2) ENSP00000366532.4:p.Arg503GlyfsTer18
ENST00000377319.7:c.1371del (CACNB2) ENSP00000366536.3:p.Arg458GlyfsTer18
ENST00000377328.5:c.900del (CACNB2) ENSP00000366545.1:p.Arg301GlyfsTer18
ENST00000377329.8:c.1488del (CACNB2) ENSP00000366546.4:p.Arg497GlyfsTer18
ENST00000377331.6:c.1494del (CACNB2) ENSP00000366548.2:p.Arg499GlyfsTer18
ENST00000396576.6:c.1485del (CACNB2) ENSP00000379821.2:p.Arg496GlyfsTer18
ENST00000612134.4:c.1354del (CACNB2) ENSP00000480563.1:n.1354del
ENST00000612743.1:c.162del (CACNB2) ENSP00000478676.1:p.Arg55GlyfsTer18
ENST00000615785.4:c.735del (CACNB2) ENSP00000480260.1:p.Arg246GlyfsTer18
ENST00000617363.4:c.1413del (CACNB2) ENSP00000479756.1:p.Arg472GlyfsTer18
NM_000724.3:c.1485del (CACNB2) NP_000715.2:p.Arg496GlyfsTer18
NM_001167945.1:c.1452del (CACNB2) NP_001161417.1:p.Arg485GlyfsTer18
NM_201570.2:c.1506del (CACNB2) NP_963864.1:p.Arg503GlyfsTer18
NM_201571.3:c.1566del (CACNB2) NP_963865.2:p.Arg523GlyfsTer18
NM_201572.3:c.1494del (CACNB2) NP_963866.2:p.Arg499GlyfsTer18
NM_201590.2:c.1488del (CACNB2) NP_963884.2:p.Arg497GlyfsTer18
NM_201593.2:c.1536del (CACNB2) NP_963887.2:p.Arg513GlyfsTer18
NM_201596.2:c.1650del (CACNB2) NP_963890.2:p.Arg551GlyfsTer18
NM_201597.2:c.1578del (CACNB2) NP_963891.1:p.Arg527GlyfsTer18
XM_005252588.2:c.1392del (CACNB2) XP_005252645.1:p.Arg465GlyfsTer18
XM_005252591.2:c.810del (CACNB2) XP_005252648.1:p.Arg271GlyfsTer18
XM_006717502.2:c.1470del (CACNB2) XP_006717565.1:p.Arg491GlyfsTer18
XM_011519659.1:c.1416del (CACNB2) XP_011517961.1:p.Arg473GlyfsTer18
XM_011519660.1:c.1371del (CACNB2) XP_011517962.1:p.Arg458GlyfsTer18
NM_001330060.1:c.1371del (CACNB2) NP_001316989.1:p.Arg458GlyfsTer18
XM_005252588.4:c.1392del (CACNB2) XP_005252645.1:p.Arg465GlyfsTer18
XM_005252591.3:c.810del (CACNB2) XP_005252648.1:p.Arg271GlyfsTer18
XM_006717502.3:c.1470del (CACNB2) XP_006717565.1:p.Arg491GlyfsTer18
XM_011519659.2:c.1416del (CACNB2) XP_011517961.1:p.Arg473GlyfsTer18
XM_017016625.1:c.810del (CACNB2) XP_016872114.1:p.Arg271GlyfsTer18
XR_001747060.1:n.2423+2679del (NSUN6)
XR_001747198.1:n.1775del (CACNB2)
NM_000724.4:c.1485del (CACNB2) NP_000715.2:p.Arg496GlyfsTer18
NM_001167945.2:c.1452del (CACNB2) NP_001161417.1:p.Arg485GlyfsTer18
NM_001330060.2:c.1371del (CACNB2) NP_001316989.1:p.Arg458GlyfsTer18
NM_201570.3:c.1506del (CACNB2) NP_963864.1:p.Arg503GlyfsTer18
NM_201571.4:c.1566del (CACNB2) NP_963865.2:p.Arg523GlyfsTer18
NM_201572.4:c.1494del (CACNB2) NP_963866.2:p.Arg499GlyfsTer18
NM_201590.3:c.1488del (CACNB2) MANE Plus Clinical NP_963884.2:p.Arg497GlyfsTer18
NM_201593.3:c.1536del (CACNB2) NP_963887.2:p.Arg513GlyfsTer18
NM_201596.3:c.1650del (CACNB2) MANE Select NP_963890.2:p.Arg551GlyfsTer18
NM_201597.3:c.1578del (CACNB2) NP_963891.1:p.Arg527GlyfsTer18