Canonical Allele Identifier: CA2608435601

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539396-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539400_18539401del , CM000672.2:g.18539400_18539401del	GRCh38
NC_000010.10:g.18828329_18828330del , CM000672.1:g.18828329_18828330del	GRCh37
NC_000010.9:g.18868335_18868336del	NCBI36
NG_016195.1:g.403724_403725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1515_1516del (CACNB2)	ENSP00000366532.4:p.Glu505AspfsTer3
ENST00000377319.9:c.1380_1381del (CACNB2)	ENSP00000366536.3:p.Glu460AspfsTer3
ENST00000645287.2:c.1503_1504del (CACNB2)	ENSP00000496203.1:p.Glu501AspfsTer3
ENST00000282343.13:c.1575_1576del (CACNB2)	ENSP00000282343.8:p.Glu525AspfsTer3
ENST00000324631.13:c.1659_1660del (CACNB2) MANE Select	ENSP00000320025.8:p.Glu553AspfsTer3
ENST00000377315.5:c.1515_1516del (CACNB2)	ENSP00000366532.4:p.Glu505AspfsTer3
ENST00000377319.8:c.1380_1381del (CACNB2)	ENSP00000366536.3:p.Glu460AspfsTer3
ENST00000377329.10:c.1497_1498del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu499AspfsTer3
ENST00000377331.8:c.1284_1285del (CACNB2)	ENSP00000366548.4:p.Glu428AspfsTer3
ENST00000643096.2:c.1461_1462del (CACNB2)	ENSP00000494209.2:p.Glu487AspfsTer3
ENST00000645287.1:c.1503_1504del (CACNB2)	ENSP00000496203.1:p.Glu501AspfsTer3
ENST00000647168.2:c.*800_*801del (CACNB2)	ENSP00000495854.2:n.*800_*801del
ENST00000650685.1:c.1401_1402del (CACNB2)	ENSP00000498460.1:p.Glu467AspfsTer3
ENST00000651330.1:c.*933_*934del (CACNB2)	ENSP00000498457.1:n.*933_*934del
ENST00000651468.1:c.1216_1217del (CACNB2)	ENSP00000498352.1:n.1216_1217del
ENST00000651928.1:c.*898_*899del (CACNB2)	ENSP00000499177.1:n.*898_*899del
ENST00000652391.1:c.1479_1480del (CACNB2)	ENSP00000498938.1:p.Glu493AspfsTer3
ENST00000652478.1:c.*759_*760del (CACNB2)	ENSP00000498812.1:n.*759_*760del
ENST00000282343.12:c.1575_1576del (CACNB2)	ENSP00000282343.8:p.Glu525AspfsTer3
ENST00000324631.11:c.1659_1660del (CACNB2)	ENSP00000320025.7:p.Glu553AspfsTer3
ENST00000352115.10:c.1587_1588del (CACNB2)	ENSP00000344474.6:p.Glu529AspfsTer3
ENST00000377315.4:c.1515_1516del (CACNB2)	ENSP00000366532.4:p.Glu505AspfsTer3
ENST00000377319.7:c.1380_1381del (CACNB2)	ENSP00000366536.3:p.Glu460AspfsTer3
ENST00000377328.5:c.909_910del (CACNB2)	ENSP00000366545.1:p.Glu303AspfsTer3
ENST00000377329.8:c.1497_1498del (CACNB2)	ENSP00000366546.4:p.Glu499AspfsTer3
ENST00000377331.6:c.1503_1504del (CACNB2)	ENSP00000366548.2:p.Glu501AspfsTer3
ENST00000396576.6:c.1494_1495del (CACNB2)	ENSP00000379821.2:p.Glu498AspfsTer3
ENST00000612134.4:c.1363_1364del (CACNB2)	ENSP00000480563.1:n.1363_1364del
ENST00000612743.1:c.171_172del (CACNB2)	ENSP00000478676.1:p.Glu57AspfsTer3
ENST00000615785.4:c.744_745del (CACNB2)	ENSP00000480260.1:p.Glu248AspfsTer3
ENST00000617363.4:c.1422_1423del (CACNB2)	ENSP00000479756.1:p.Glu474AspfsTer3
NM_000724.3:c.1494_1495del (CACNB2)	NP_000715.2:p.Glu498AspfsTer3
NM_001167945.1:c.1461_1462del (CACNB2)	NP_001161417.1:p.Glu487AspfsTer3
NM_201570.2:c.1515_1516del (CACNB2)	NP_963864.1:p.Glu505AspfsTer3
NM_201571.3:c.1575_1576del (CACNB2)	NP_963865.2:p.Glu525AspfsTer3
NM_201572.3:c.1503_1504del (CACNB2)	NP_963866.2:p.Glu501AspfsTer3
NM_201590.2:c.1497_1498del (CACNB2)	NP_963884.2:p.Glu499AspfsTer3
NM_201593.2:c.1545_1546del (CACNB2)	NP_963887.2:p.Glu515AspfsTer3
NM_201596.2:c.1659_1660del (CACNB2)	NP_963890.2:p.Glu553AspfsTer3
NM_201597.2:c.1587_1588del (CACNB2)	NP_963891.1:p.Glu529AspfsTer3
XM_005252588.2:c.1401_1402del (CACNB2)	XP_005252645.1:p.Glu467AspfsTer3
XM_005252591.2:c.819_820del (CACNB2)	XP_005252648.1:p.Glu273AspfsTer3
XM_006717502.2:c.1479_1480del (CACNB2)	XP_006717565.1:p.Glu493AspfsTer3
XM_011519659.1:c.1425_1426del (CACNB2)	XP_011517961.1:p.Glu475AspfsTer3
XM_011519660.1:c.1380_1381del (CACNB2)	XP_011517962.1:p.Glu460AspfsTer3
NM_001330060.1:c.1380_1381del (CACNB2)	NP_001316989.1:p.Glu460AspfsTer3
XM_005252588.4:c.1401_1402del (CACNB2)	XP_005252645.1:p.Glu467AspfsTer3
XM_005252591.3:c.819_820del (CACNB2)	XP_005252648.1:p.Glu273AspfsTer3
XM_006717502.3:c.1479_1480del (CACNB2)	XP_006717565.1:p.Glu493AspfsTer3
XM_011519659.2:c.1425_1426del (CACNB2)	XP_011517961.1:p.Glu475AspfsTer3
XM_017016625.1:c.819_820del (CACNB2)	XP_016872114.1:p.Glu273AspfsTer3
XR_001747060.1:n.2423+2671_2423+2672del (NSUN6)
XR_001747198.1:n.1784_1785del (CACNB2)
NM_000724.4:c.1494_1495del (CACNB2)	NP_000715.2:p.Glu498AspfsTer3
NM_001167945.2:c.1461_1462del (CACNB2)	NP_001161417.1:p.Glu487AspfsTer3
NM_001330060.2:c.1380_1381del (CACNB2)	NP_001316989.1:p.Glu460AspfsTer3
NM_201570.3:c.1515_1516del (CACNB2)	NP_963864.1:p.Glu505AspfsTer3
NM_201571.4:c.1575_1576del (CACNB2)	NP_963865.2:p.Glu525AspfsTer3
NM_201572.4:c.1503_1504del (CACNB2)	NP_963866.2:p.Glu501AspfsTer3
NM_201590.3:c.1497_1498del (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu499AspfsTer3
NM_201593.3:c.1545_1546del (CACNB2)	NP_963887.2:p.Glu515AspfsTer3
NM_201596.3:c.1659_1660del (CACNB2) MANE Select	NP_963890.2:p.Glu553AspfsTer3
NM_201597.3:c.1587_1588del (CACNB2)	NP_963891.1:p.Glu529AspfsTer3