Canonical Allele Identifier: CA2608435594

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539352-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539353del , CM000672.2:g.18539353del	GRCh38
NC_000010.10:g.18828282del , CM000672.1:g.18828282del	GRCh37
NC_000010.9:g.18868288del	NCBI36
NG_016195.1:g.403677del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1468del (CACNB2)	ENSP00000366532.4:p.His490ThrfsTer?
ENST00000377319.9:c.1333del (CACNB2)	ENSP00000366536.3:p.His445ThrfsTer?
ENST00000645287.2:c.1456del (CACNB2)	ENSP00000496203.1:p.His486ThrfsTer?
ENST00000282343.13:c.1528del (CACNB2)	ENSP00000282343.8:p.His510ThrfsTer?
ENST00000324631.13:c.1612del (CACNB2) MANE Select	ENSP00000320025.8:p.His538ThrfsTer?
ENST00000377315.5:c.1468del (CACNB2)	ENSP00000366532.4:p.His490ThrfsTer?
ENST00000377319.8:c.1333del (CACNB2)	ENSP00000366536.3:p.His445ThrfsTer?
ENST00000377329.10:c.1450del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His484ThrfsTer?
ENST00000377331.8:c.1237del (CACNB2)	ENSP00000366548.4:p.His413ThrfsTer?
ENST00000643096.2:c.1414del (CACNB2)	ENSP00000494209.2:p.His472ThrfsTer?
ENST00000645287.1:c.1456del (CACNB2)	ENSP00000496203.1:p.His486ThrfsTer?
ENST00000647168.2:c.*753del (CACNB2)	ENSP00000495854.2:n.*753del
ENST00000650685.1:c.1354del (CACNB2)	ENSP00000498460.1:p.His452ThrfsTer?
ENST00000651330.1:c.*886del (CACNB2)	ENSP00000498457.1:n.*886del
ENST00000651468.1:c.1169del (CACNB2)	ENSP00000498352.1:n.1169del
ENST00000651928.1:c.*851del (CACNB2)	ENSP00000499177.1:n.*851del
ENST00000652391.1:c.1432del (CACNB2)	ENSP00000498938.1:p.His478ThrfsTer?
ENST00000652478.1:c.*712del (CACNB2)	ENSP00000498812.1:n.*712del
ENST00000282343.12:c.1528del (CACNB2)	ENSP00000282343.8:p.His510ThrfsTer?
ENST00000324631.11:c.1612del (CACNB2)	ENSP00000320025.7:p.His538ThrfsTer?
ENST00000352115.10:c.1540del (CACNB2)	ENSP00000344474.6:p.His514ThrfsTer?
ENST00000377315.4:c.1468del (CACNB2)	ENSP00000366532.4:p.His490ThrfsTer?
ENST00000377319.7:c.1333del (CACNB2)	ENSP00000366536.3:p.His445ThrfsTer?
ENST00000377328.5:c.862del (CACNB2)	ENSP00000366545.1:p.His288ThrfsTer?
ENST00000377329.8:c.1450del (CACNB2)	ENSP00000366546.4:p.His484ThrfsTer?
ENST00000377331.6:c.1456del (CACNB2)	ENSP00000366548.2:p.His486ThrfsTer?
ENST00000396576.6:c.1447del (CACNB2)	ENSP00000379821.2:p.His483ThrfsTer?
ENST00000612134.4:c.1316del (CACNB2)	ENSP00000480563.1:n.1316del
ENST00000612743.1:c.124del (CACNB2)	ENSP00000478676.1:p.His42ThrfsTer?
ENST00000615785.4:c.697del (CACNB2)	ENSP00000480260.1:p.His233ThrfsTer?
ENST00000617363.4:c.1375del (CACNB2)	ENSP00000479756.1:p.His459ThrfsTer?
NM_000724.3:c.1447del (CACNB2)	NP_000715.2:p.His483ThrfsTer?
NM_001167945.1:c.1414del (CACNB2)	NP_001161417.1:p.His472ThrfsTer?
NM_201570.2:c.1468del (CACNB2)	NP_963864.1:p.His490ThrfsTer?
NM_201571.3:c.1528del (CACNB2)	NP_963865.2:p.His510ThrfsTer?
NM_201572.3:c.1456del (CACNB2)	NP_963866.2:p.His486ThrfsTer?
NM_201590.2:c.1450del (CACNB2)	NP_963884.2:p.His484ThrfsTer?
NM_201593.2:c.1498del (CACNB2)	NP_963887.2:p.His500ThrfsTer?
NM_201596.2:c.1612del (CACNB2)	NP_963890.2:p.His538ThrfsTer?
NM_201597.2:c.1540del (CACNB2)	NP_963891.1:p.His514ThrfsTer?
XM_005252588.2:c.1354del (CACNB2)	XP_005252645.1:p.His452ThrfsTer?
XM_005252591.2:c.772del (CACNB2)	XP_005252648.1:p.His258ThrfsTer?
XM_006717502.2:c.1432del (CACNB2)	XP_006717565.1:p.His478ThrfsTer?
XM_011519659.1:c.1378del (CACNB2)	XP_011517961.1:p.His460ThrfsTer?
XM_011519660.1:c.1333del (CACNB2)	XP_011517962.1:p.His445ThrfsTer?
NM_001330060.1:c.1333del (CACNB2)	NP_001316989.1:p.His445ThrfsTer?
XM_005252588.4:c.1354del (CACNB2)	XP_005252645.1:p.His452ThrfsTer?
XM_005252591.3:c.772del (CACNB2)	XP_005252648.1:p.His258ThrfsTer?
XM_006717502.3:c.1432del (CACNB2)	XP_006717565.1:p.His478ThrfsTer?
XM_011519659.2:c.1378del (CACNB2)	XP_011517961.1:p.His460ThrfsTer?
XM_017016625.1:c.772del (CACNB2)	XP_016872114.1:p.His258ThrfsTer?
XR_001747060.1:n.2423+2716del (NSUN6)
XR_001747198.1:n.1737del (CACNB2)
NM_000724.4:c.1447del (CACNB2)	NP_000715.2:p.His483ThrfsTer?
NM_001167945.2:c.1414del (CACNB2)	NP_001161417.1:p.His472ThrfsTer?
NM_001330060.2:c.1333del (CACNB2)	NP_001316989.1:p.His445ThrfsTer?
NM_201570.3:c.1468del (CACNB2)	NP_963864.1:p.His490ThrfsTer?
NM_201571.4:c.1528del (CACNB2)	NP_963865.2:p.His510ThrfsTer?
NM_201572.4:c.1456del (CACNB2)	NP_963866.2:p.His486ThrfsTer?
NM_201590.3:c.1450del (CACNB2) MANE Plus Clinical	NP_963884.2:p.His484ThrfsTer?
NM_201593.3:c.1498del (CACNB2)	NP_963887.2:p.His500ThrfsTer?
NM_201596.3:c.1612del (CACNB2) MANE Select	NP_963890.2:p.His538ThrfsTer?
NM_201597.3:c.1540del (CACNB2)	NP_963891.1:p.His514ThrfsTer?