Canonical Allele Identifier: CA2574454585

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539422del , CM000672.2:g.18539422del	GRCh38
NC_000010.10:g.18828351del , CM000672.1:g.18828351del	GRCh37
NC_000010.9:g.18868357del	NCBI36
NG_016195.1:g.403746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1537del (CACNB2)	ENSP00000366532.4:p.Glu513ArgfsTer8
ENST00000377319.9:c.1402del (CACNB2)	ENSP00000366536.3:p.Glu468ArgfsTer8
ENST00000645287.2:c.1525del (CACNB2)	ENSP00000496203.1:p.Glu509ArgfsTer8
ENST00000282343.13:c.1597del (CACNB2)	ENSP00000282343.8:p.Glu533ArgfsTer8
ENST00000324631.13:c.1681del (CACNB2) MANE Select	ENSP00000320025.8:p.Glu561ArgfsTer8
ENST00000377315.5:c.1537del (CACNB2)	ENSP00000366532.4:p.Glu513ArgfsTer8
ENST00000377319.8:c.1402del (CACNB2)	ENSP00000366536.3:p.Glu468ArgfsTer8
ENST00000377329.10:c.1519del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu507ArgfsTer8
ENST00000377331.8:c.1306del (CACNB2)	ENSP00000366548.4:p.Glu436ArgfsTer8
ENST00000643096.2:c.1483del (CACNB2)	ENSP00000494209.2:p.Glu495ArgfsTer8
ENST00000645287.1:c.1525del (CACNB2)	ENSP00000496203.1:p.Glu509ArgfsTer8
ENST00000647168.2:c.*822del (CACNB2)	ENSP00000495854.2:n.*822del
ENST00000650685.1:c.1423del (CACNB2)	ENSP00000498460.1:p.Glu475ArgfsTer8
ENST00000651330.1:c.*955del (CACNB2)	ENSP00000498457.1:n.*955del
ENST00000651468.1:c.1238del (CACNB2)	ENSP00000498352.1:n.1238del
ENST00000651928.1:c.*920del (CACNB2)	ENSP00000499177.1:n.*920del
ENST00000652391.1:c.1501del (CACNB2)	ENSP00000498938.1:p.Glu501ArgfsTer8
ENST00000652478.1:c.*781del (CACNB2)	ENSP00000498812.1:n.*781del
ENST00000282343.12:c.1597del (CACNB2)	ENSP00000282343.8:p.Glu533ArgfsTer8
ENST00000324631.11:c.1681del (CACNB2)	ENSP00000320025.7:p.Glu561ArgfsTer8
ENST00000352115.10:c.1609del (CACNB2)	ENSP00000344474.6:p.Glu537ArgfsTer8
ENST00000377315.4:c.1537del (CACNB2)	ENSP00000366532.4:p.Glu513ArgfsTer8
ENST00000377319.7:c.1402del (CACNB2)	ENSP00000366536.3:p.Glu468ArgfsTer8
ENST00000377328.5:c.931del (CACNB2)	ENSP00000366545.1:p.Glu311ArgfsTer8
ENST00000377329.8:c.1519del (CACNB2)	ENSP00000366546.4:p.Glu507ArgfsTer8
ENST00000377331.6:c.1525del (CACNB2)	ENSP00000366548.2:p.Glu509ArgfsTer8
ENST00000396576.6:c.1516del (CACNB2)	ENSP00000379821.2:p.Glu506ArgfsTer8
ENST00000612134.4:c.1385del (CACNB2)	ENSP00000480563.1:n.1385del
ENST00000612743.1:c.193del (CACNB2)	ENSP00000478676.1:p.Glu65ArgfsTer8
ENST00000615785.4:c.766del (CACNB2)	ENSP00000480260.1:p.Glu256ArgfsTer8
ENST00000617363.4:c.1444del (CACNB2)	ENSP00000479756.1:p.Glu482ArgfsTer8
NM_000724.3:c.1516del (CACNB2)	NP_000715.2:p.Glu506ArgfsTer8
NM_001167945.1:c.1483del (CACNB2)	NP_001161417.1:p.Glu495ArgfsTer8
NM_201570.2:c.1537del (CACNB2)	NP_963864.1:p.Glu513ArgfsTer8
NM_201571.3:c.1597del (CACNB2)	NP_963865.2:p.Glu533ArgfsTer8
NM_201572.3:c.1525del (CACNB2)	NP_963866.2:p.Glu509ArgfsTer8
NM_201590.2:c.1519del (CACNB2)	NP_963884.2:p.Glu507ArgfsTer8
NM_201593.2:c.1567del (CACNB2)	NP_963887.2:p.Glu523ArgfsTer8
NM_201596.2:c.1681del (CACNB2)	NP_963890.2:p.Glu561ArgfsTer8
NM_201597.2:c.1609del (CACNB2)	NP_963891.1:p.Glu537ArgfsTer8
XM_005252588.2:c.1423del (CACNB2)	XP_005252645.1:p.Glu475ArgfsTer8
XM_005252591.2:c.841del (CACNB2)	XP_005252648.1:p.Glu281ArgfsTer8
XM_006717502.2:c.1501del (CACNB2)	XP_006717565.1:p.Glu501ArgfsTer8
XM_011519659.1:c.1447del (CACNB2)	XP_011517961.1:p.Glu483ArgfsTer8
XM_011519660.1:c.1402del (CACNB2)	XP_011517962.1:p.Glu468ArgfsTer8
NM_001330060.1:c.1402del (CACNB2)	NP_001316989.1:p.Glu468ArgfsTer8
XM_005252588.4:c.1423del (CACNB2)	XP_005252645.1:p.Glu475ArgfsTer8
XM_005252591.3:c.841del (CACNB2)	XP_005252648.1:p.Glu281ArgfsTer8
XM_006717502.3:c.1501del (CACNB2)	XP_006717565.1:p.Glu501ArgfsTer8
XM_011519659.2:c.1447del (CACNB2)	XP_011517961.1:p.Glu483ArgfsTer8
XM_017016625.1:c.841del (CACNB2)	XP_016872114.1:p.Glu281ArgfsTer8
XR_001747060.1:n.2423+2648del (NSUN6)
XR_001747198.1:n.1806del (CACNB2)
NM_000724.4:c.1516del (CACNB2)	NP_000715.2:p.Glu506ArgfsTer8
NM_001167945.2:c.1483del (CACNB2)	NP_001161417.1:p.Glu495ArgfsTer8
NM_001330060.2:c.1402del (CACNB2)	NP_001316989.1:p.Glu468ArgfsTer8
NM_201570.3:c.1537del (CACNB2)	NP_963864.1:p.Glu513ArgfsTer8
NM_201571.4:c.1597del (CACNB2)	NP_963865.2:p.Glu533ArgfsTer8
NM_201572.4:c.1525del (CACNB2)	NP_963866.2:p.Glu509ArgfsTer8
NM_201590.3:c.1519del (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu507ArgfsTer8
NM_201593.3:c.1567del (CACNB2)	NP_963887.2:p.Glu523ArgfsTer8
NM_201596.3:c.1681del (CACNB2) MANE Select	NP_963890.2:p.Glu561ArgfsTer8
NM_201597.3:c.1609del (CACNB2)	NP_963891.1:p.Glu537ArgfsTer8