Canonical Allele Identifier: CA2574454565

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539403_18539411dup , CM000672.2:g.18539403_18539411dup	GRCh38
NC_000010.10:g.18828332_18828340dup , CM000672.1:g.18828332_18828340dup	GRCh37
NC_000010.9:g.18868338_18868346dup	NCBI36
NG_016195.1:g.403727_403735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1518_1526dup (CACNB2)	ENSP00000366532.4:p.Ser509_Glu510insPheAspSer
ENST00000377319.9:c.1383_1391dup (CACNB2)	ENSP00000366536.3:p.Ser464_Glu465insPheAspSer
ENST00000645287.2:c.1506_1514dup (CACNB2)	ENSP00000496203.1:p.Ser505_Glu506insPheAspSer
ENST00000282343.13:c.1578_1586dup (CACNB2)	ENSP00000282343.8:p.Ser529_Glu530insPheAspSer
ENST00000324631.13:c.1662_1670dup (CACNB2) MANE Select	ENSP00000320025.8:p.Ser557_Glu558insPheAspSer
ENST00000377315.5:c.1518_1526dup (CACNB2)	ENSP00000366532.4:p.Ser509_Glu510insPheAspSer
ENST00000377319.8:c.1383_1391dup (CACNB2)	ENSP00000366536.3:p.Ser464_Glu465insPheAspSer
ENST00000377329.10:c.1500_1508dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser503_Glu504insPheAspSer
ENST00000377331.8:c.1287_1295dup (CACNB2)	ENSP00000366548.4:p.Ser432_Glu433insPheAspSer
ENST00000643096.2:c.1464_1472dup (CACNB2)	ENSP00000494209.2:p.Ser491_Glu492insPheAspSer
ENST00000645287.1:c.1506_1514dup (CACNB2)	ENSP00000496203.1:p.Ser505_Glu506insPheAspSer
ENST00000647168.2:c.*803_*811dup (CACNB2)	ENSP00000495854.2:n.*803_*811dup
ENST00000650685.1:c.1404_1412dup (CACNB2)	ENSP00000498460.1:p.Ser471_Glu472insPheAspSer
ENST00000651330.1:c.*936_*944dup (CACNB2)	ENSP00000498457.1:n.*936_*944dup
ENST00000651468.1:c.1219_1227dup (CACNB2)	ENSP00000498352.1:n.1219_1227dup
ENST00000651928.1:c.*901_*909dup (CACNB2)	ENSP00000499177.1:n.*901_*909dup
ENST00000652391.1:c.1482_1490dup (CACNB2)	ENSP00000498938.1:p.Ser497_Glu498insPheAspSer
ENST00000652478.1:c.*762_*770dup (CACNB2)	ENSP00000498812.1:n.*762_*770dup
ENST00000282343.12:c.1578_1586dup (CACNB2)	ENSP00000282343.8:p.Ser529_Glu530insPheAspSer
ENST00000324631.11:c.1662_1670dup (CACNB2)	ENSP00000320025.7:p.Ser557_Glu558insPheAspSer
ENST00000352115.10:c.1590_1598dup (CACNB2)	ENSP00000344474.6:p.Ser533_Glu534insPheAspSer
ENST00000377315.4:c.1518_1526dup (CACNB2)	ENSP00000366532.4:p.Ser509_Glu510insPheAspSer
ENST00000377319.7:c.1383_1391dup (CACNB2)	ENSP00000366536.3:p.Ser464_Glu465insPheAspSer
ENST00000377328.5:c.912_920dup (CACNB2)	ENSP00000366545.1:p.Ser307_Glu308insPheAspSer
ENST00000377329.8:c.1500_1508dup (CACNB2)	ENSP00000366546.4:p.Ser503_Glu504insPheAspSer
ENST00000377331.6:c.1506_1514dup (CACNB2)	ENSP00000366548.2:p.Ser505_Glu506insPheAspSer
ENST00000396576.6:c.1497_1505dup (CACNB2)	ENSP00000379821.2:p.Ser502_Glu503insPheAspSer
ENST00000612134.4:c.1366_1374dup (CACNB2)	ENSP00000480563.1:n.1366_1374dup
ENST00000612743.1:c.174_182dup (CACNB2)	ENSP00000478676.1:p.Ser61_Glu62insPheAspSer
ENST00000615785.4:c.747_755dup (CACNB2)	ENSP00000480260.1:p.Ser252_Glu253insPheAspSer
ENST00000617363.4:c.1425_1433dup (CACNB2)	ENSP00000479756.1:p.Ser478_Glu479insPheAspSer
NM_000724.3:c.1497_1505dup (CACNB2)	NP_000715.2:p.Ser502_Glu503insPheAspSer
NM_001167945.1:c.1464_1472dup (CACNB2)	NP_001161417.1:p.Ser491_Glu492insPheAspSer
NM_201570.2:c.1518_1526dup (CACNB2)	NP_963864.1:p.Ser509_Glu510insPheAspSer
NM_201571.3:c.1578_1586dup (CACNB2)	NP_963865.2:p.Ser529_Glu530insPheAspSer
NM_201572.3:c.1506_1514dup (CACNB2)	NP_963866.2:p.Ser505_Glu506insPheAspSer
NM_201590.2:c.1500_1508dup (CACNB2)	NP_963884.2:p.Ser503_Glu504insPheAspSer
NM_201593.2:c.1548_1556dup (CACNB2)	NP_963887.2:p.Ser519_Glu520insPheAspSer
NM_201596.2:c.1662_1670dup (CACNB2)	NP_963890.2:p.Ser557_Glu558insPheAspSer
NM_201597.2:c.1590_1598dup (CACNB2)	NP_963891.1:p.Ser533_Glu534insPheAspSer
XM_005252588.2:c.1404_1412dup (CACNB2)	XP_005252645.1:p.Ser471_Glu472insPheAspSer
XM_005252591.2:c.822_830dup (CACNB2)	XP_005252648.1:p.Ser277_Glu278insPheAspSer
XM_006717502.2:c.1482_1490dup (CACNB2)	XP_006717565.1:p.Ser497_Glu498insPheAspSer
XM_011519659.1:c.1428_1436dup (CACNB2)	XP_011517961.1:p.Ser479_Glu480insPheAspSer
XM_011519660.1:c.1383_1391dup (CACNB2)	XP_011517962.1:p.Ser464_Glu465insPheAspSer
NM_001330060.1:c.1383_1391dup (CACNB2)	NP_001316989.1:p.Ser464_Glu465insPheAspSer
XM_005252588.4:c.1404_1412dup (CACNB2)	XP_005252645.1:p.Ser471_Glu472insPheAspSer
XM_005252591.3:c.822_830dup (CACNB2)	XP_005252648.1:p.Ser277_Glu278insPheAspSer
XM_006717502.3:c.1482_1490dup (CACNB2)	XP_006717565.1:p.Ser497_Glu498insPheAspSer
XM_011519659.2:c.1428_1436dup (CACNB2)	XP_011517961.1:p.Ser479_Glu480insPheAspSer
XM_017016625.1:c.822_830dup (CACNB2)	XP_016872114.1:p.Ser277_Glu278insPheAspSer
XR_001747060.1:n.2423+2659_2423+2667dup (NSUN6)
XR_001747198.1:n.1787_1795dup (CACNB2)
NM_000724.4:c.1497_1505dup (CACNB2)	NP_000715.2:p.Ser502_Glu503insPheAspSer
NM_001167945.2:c.1464_1472dup (CACNB2)	NP_001161417.1:p.Ser491_Glu492insPheAspSer
NM_001330060.2:c.1383_1391dup (CACNB2)	NP_001316989.1:p.Ser464_Glu465insPheAspSer
NM_201570.3:c.1518_1526dup (CACNB2)	NP_963864.1:p.Ser509_Glu510insPheAspSer
NM_201571.4:c.1578_1586dup (CACNB2)	NP_963865.2:p.Ser529_Glu530insPheAspSer
NM_201572.4:c.1506_1514dup (CACNB2)	NP_963866.2:p.Ser505_Glu506insPheAspSer
NM_201590.3:c.1500_1508dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser503_Glu504insPheAspSer
NM_201593.3:c.1548_1556dup (CACNB2)	NP_963887.2:p.Ser519_Glu520insPheAspSer
NM_201596.3:c.1662_1670dup (CACNB2) MANE Select	NP_963890.2:p.Ser557_Glu558insPheAspSer
NM_201597.3:c.1590_1598dup (CACNB2)	NP_963891.1:p.Ser533_Glu534insPheAspSer