Canonical Allele Identifier: CA2786836046

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539348_18539371dup , CM000672.2:g.18539348_18539371dup	GRCh38
NC_000010.10:g.18828277_18828300dup , CM000672.1:g.18828277_18828300dup	GRCh37
NC_000010.9:g.18868283_18868306dup	NCBI36
NG_016195.1:g.403672_403695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1463_1486dup (CACNB2)	ENSP00000366532.4:p.Ser495_Gly496insAlaProHisHisAsnHisArgSer
ENST00000377319.9:c.1328_1351dup (CACNB2)	ENSP00000366536.3:p.Ser450_Gly451insAlaProHisHisAsnHisArgSer
ENST00000645287.2:c.1451_1474dup (CACNB2)	ENSP00000496203.1:p.Ser491_Gly492insAlaProHisHisAsnHisArgSer
ENST00000282343.13:c.1523_1546dup (CACNB2)	ENSP00000282343.8:p.Ser515_Gly516insAlaProHisHisAsnHisArgSer
ENST00000324631.13:c.1607_1630dup (CACNB2) MANE Select	ENSP00000320025.8:p.Ser543_Gly544insAlaProHisHisAsnHisArgSer
ENST00000377315.5:c.1463_1486dup (CACNB2)	ENSP00000366532.4:p.Ser495_Gly496insAlaProHisHisAsnHisArgSer
ENST00000377319.8:c.1328_1351dup (CACNB2)	ENSP00000366536.3:p.Ser450_Gly451insAlaProHisHisAsnHisArgSer
ENST00000377329.10:c.1445_1468dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser489_Gly490insAlaProHisHisAsnHisArgSer
ENST00000377331.8:c.1232_1255dup (CACNB2)	ENSP00000366548.4:p.Ser418_Gly419insAlaProHisHisAsnHisArgSer
ENST00000643096.2:c.1409_1432dup (CACNB2)	ENSP00000494209.2:p.Ser477_Gly478insAlaProHisHisAsnHisArgSer
ENST00000645287.1:c.1451_1474dup (CACNB2)	ENSP00000496203.1:p.Ser491_Gly492insAlaProHisHisAsnHisArgSer
ENST00000647168.2:c.*748_*771dup (CACNB2)	ENSP00000495854.2:n.*748_*771dup
ENST00000650685.1:c.1349_1372dup (CACNB2)	ENSP00000498460.1:p.Ser457_Gly458insAlaProHisHisAsnHisArgSer
ENST00000651330.1:c.*881_*904dup (CACNB2)	ENSP00000498457.1:n.*881_*904dup
ENST00000651468.1:c.1164_1187dup (CACNB2)	ENSP00000498352.1:n.1164_1187dup
ENST00000651928.1:c.*846_*869dup (CACNB2)	ENSP00000499177.1:n.*846_*869dup
ENST00000652391.1:c.1427_1450dup (CACNB2)	ENSP00000498938.1:p.Ser483_Gly484insAlaProHisHisAsnHisArgSer
ENST00000652478.1:c.*707_*730dup (CACNB2)	ENSP00000498812.1:n.*707_*730dup
ENST00000282343.12:c.1523_1546dup (CACNB2)	ENSP00000282343.8:p.Ser515_Gly516insAlaProHisHisAsnHisArgSer
ENST00000324631.11:c.1607_1630dup (CACNB2)	ENSP00000320025.7:p.Ser543_Gly544insAlaProHisHisAsnHisArgSer
ENST00000352115.10:c.1535_1558dup (CACNB2)	ENSP00000344474.6:p.Ser519_Gly520insAlaProHisHisAsnHisArgSer
ENST00000377315.4:c.1463_1486dup (CACNB2)	ENSP00000366532.4:p.Ser495_Gly496insAlaProHisHisAsnHisArgSer
ENST00000377319.7:c.1328_1351dup (CACNB2)	ENSP00000366536.3:p.Ser450_Gly451insAlaProHisHisAsnHisArgSer
ENST00000377328.5:c.857_880dup (CACNB2)	ENSP00000366545.1:p.Ser293_Gly294insAlaProHisHisAsnHisArgSer
ENST00000377329.8:c.1445_1468dup (CACNB2)	ENSP00000366546.4:p.Ser489_Gly490insAlaProHisHisAsnHisArgSer
ENST00000377331.6:c.1451_1474dup (CACNB2)	ENSP00000366548.2:p.Ser491_Gly492insAlaProHisHisAsnHisArgSer
ENST00000396576.6:c.1442_1465dup (CACNB2)	ENSP00000379821.2:p.Ser488_Gly489insAlaProHisHisAsnHisArgSer
ENST00000612134.4:c.1311_1334dup (CACNB2)	ENSP00000480563.1:n.1311_1334dup
ENST00000612743.1:c.119_142dup (CACNB2)	ENSP00000478676.1:p.Ser47_Gly48insAlaProHisHisAsnHisArgSer
ENST00000615785.4:c.692_715dup (CACNB2)	ENSP00000480260.1:p.Ser238_Gly239insAlaProHisHisAsnHisArgSer
ENST00000617363.4:c.1370_1393dup (CACNB2)	ENSP00000479756.1:p.Ser464_Gly465insAlaProHisHisAsnHisArgSer
NM_000724.3:c.1442_1465dup (CACNB2)	NP_000715.2:p.Ser488_Gly489insAlaProHisHisAsnHisArgSer
NM_001167945.1:c.1409_1432dup (CACNB2)	NP_001161417.1:p.Ser477_Gly478insAlaProHisHisAsnHisArgSer
NM_201570.2:c.1463_1486dup (CACNB2)	NP_963864.1:p.Ser495_Gly496insAlaProHisHisAsnHisArgSer
NM_201571.3:c.1523_1546dup (CACNB2)	NP_963865.2:p.Ser515_Gly516insAlaProHisHisAsnHisArgSer
NM_201572.3:c.1451_1474dup (CACNB2)	NP_963866.2:p.Ser491_Gly492insAlaProHisHisAsnHisArgSer
NM_201590.2:c.1445_1468dup (CACNB2)	NP_963884.2:p.Ser489_Gly490insAlaProHisHisAsnHisArgSer
NM_201593.2:c.1493_1516dup (CACNB2)	NP_963887.2:p.Ser505_Gly506insAlaProHisHisAsnHisArgSer
NM_201596.2:c.1607_1630dup (CACNB2)	NP_963890.2:p.Ser543_Gly544insAlaProHisHisAsnHisArgSer
NM_201597.2:c.1535_1558dup (CACNB2)	NP_963891.1:p.Ser519_Gly520insAlaProHisHisAsnHisArgSer
XM_005252588.2:c.1349_1372dup (CACNB2)	XP_005252645.1:p.Ser457_Gly458insAlaProHisHisAsnHisArgSer
XM_005252591.2:c.767_790dup (CACNB2)	XP_005252648.1:p.Ser263_Gly264insAlaProHisHisAsnHisArgSer
XM_006717502.2:c.1427_1450dup (CACNB2)	XP_006717565.1:p.Ser483_Gly484insAlaProHisHisAsnHisArgSer
XM_011519659.1:c.1373_1396dup (CACNB2)	XP_011517961.1:p.Ser465_Gly466insAlaProHisHisAsnHisArgSer
XM_011519660.1:c.1328_1351dup (CACNB2)	XP_011517962.1:p.Ser450_Gly451insAlaProHisHisAsnHisArgSer
NM_001330060.1:c.1328_1351dup (CACNB2)	NP_001316989.1:p.Ser450_Gly451insAlaProHisHisAsnHisArgSer
XM_005252588.4:c.1349_1372dup (CACNB2)	XP_005252645.1:p.Ser457_Gly458insAlaProHisHisAsnHisArgSer
XM_005252591.3:c.767_790dup (CACNB2)	XP_005252648.1:p.Ser263_Gly264insAlaProHisHisAsnHisArgSer
XM_006717502.3:c.1427_1450dup (CACNB2)	XP_006717565.1:p.Ser483_Gly484insAlaProHisHisAsnHisArgSer
XM_011519659.2:c.1373_1396dup (CACNB2)	XP_011517961.1:p.Ser465_Gly466insAlaProHisHisAsnHisArgSer
XM_017016625.1:c.767_790dup (CACNB2)	XP_016872114.1:p.Ser263_Gly264insAlaProHisHisAsnHisArgSer
XR_001747060.1:n.2423+2699_2423+2722dup (NSUN6)
XR_001747198.1:n.1732_1755dup (CACNB2)
NM_000724.4:c.1442_1465dup (CACNB2)	NP_000715.2:p.Ser488_Gly489insAlaProHisHisAsnHisArgSer
NM_001167945.2:c.1409_1432dup (CACNB2)	NP_001161417.1:p.Ser477_Gly478insAlaProHisHisAsnHisArgSer
NM_001330060.2:c.1328_1351dup (CACNB2)	NP_001316989.1:p.Ser450_Gly451insAlaProHisHisAsnHisArgSer
NM_201570.3:c.1463_1486dup (CACNB2)	NP_963864.1:p.Ser495_Gly496insAlaProHisHisAsnHisArgSer
NM_201571.4:c.1523_1546dup (CACNB2)	NP_963865.2:p.Ser515_Gly516insAlaProHisHisAsnHisArgSer
NM_201572.4:c.1451_1474dup (CACNB2)	NP_963866.2:p.Ser491_Gly492insAlaProHisHisAsnHisArgSer
NM_201590.3:c.1445_1468dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser489_Gly490insAlaProHisHisAsnHisArgSer
NM_201593.3:c.1493_1516dup (CACNB2)	NP_963887.2:p.Ser505_Gly506insAlaProHisHisAsnHisArgSer
NM_201596.3:c.1607_1630dup (CACNB2) MANE Select	NP_963890.2:p.Ser543_Gly544insAlaProHisHisAsnHisArgSer
NM_201597.3:c.1535_1558dup (CACNB2)	NP_963891.1:p.Ser519_Gly520insAlaProHisHisAsnHisArgSer