Canonical Allele Identifier: CA5430113

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs765826443
• ExAC: 10:18828303 A / ACAAGT
• gnomAD v2: 10-18828303-A-ACAAGT
• gnomAD v4: 10-18539374-A-ACAAGT
• MyVariant Identifiers: chr10:g.18828303_18828304insCAAGT (hg19) ; chr10:g.18539374_18539375insCAAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539376_18539380dup , CM000672.2:g.18539376_18539380dup	GRCh38
NC_000010.10:g.18828305_18828309dup , CM000672.1:g.18828305_18828309dup	GRCh37
NC_000010.9:g.18868311_18868315dup	NCBI36
NG_016195.1:g.403700_403704dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1491_1495dup (CACNB2)	ENSP00000366532.4:p.Arg499GlnfsTer24
ENST00000377319.9:c.1356_1360dup (CACNB2)	ENSP00000366536.3:p.Arg454GlnfsTer24
ENST00000645287.2:c.1479_1483dup (CACNB2)	ENSP00000496203.1:p.Arg495GlnfsTer24
ENST00000282343.13:c.1551_1555dup (CACNB2)	ENSP00000282343.8:p.Arg519GlnfsTer24
ENST00000324631.13:c.1635_1639dup (CACNB2) MANE Select	ENSP00000320025.8:p.Arg547GlnfsTer24
ENST00000377315.5:c.1491_1495dup (CACNB2)	ENSP00000366532.4:p.Arg499GlnfsTer24
ENST00000377319.8:c.1356_1360dup (CACNB2)	ENSP00000366536.3:p.Arg454GlnfsTer24
ENST00000377329.10:c.1473_1477dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg493GlnfsTer24
ENST00000377331.8:c.1260_1264dup (CACNB2)	ENSP00000366548.4:p.Arg422GlnfsTer24
ENST00000643096.2:c.1437_1441dup (CACNB2)	ENSP00000494209.2:p.Arg481GlnfsTer24
ENST00000645287.1:c.1479_1483dup (CACNB2)	ENSP00000496203.1:p.Arg495GlnfsTer24
ENST00000647168.2:c.*776_*780dup (CACNB2)	ENSP00000495854.2:n.*776_*780dup
ENST00000650685.1:c.1377_1381dup (CACNB2)	ENSP00000498460.1:p.Arg461GlnfsTer24
ENST00000651330.1:c.*909_*913dup (CACNB2)	ENSP00000498457.1:n.*909_*913dup
ENST00000651468.1:c.1192_1196dup (CACNB2)	ENSP00000498352.1:n.1192_1196dup
ENST00000651928.1:c.*874_*878dup (CACNB2)	ENSP00000499177.1:n.*874_*878dup
ENST00000652391.1:c.1455_1459dup (CACNB2)	ENSP00000498938.1:p.Arg487GlnfsTer24
ENST00000652478.1:c.*735_*739dup (CACNB2)	ENSP00000498812.1:n.*735_*739dup
ENST00000282343.12:c.1551_1555dup (CACNB2)	ENSP00000282343.8:p.Arg519GlnfsTer24
ENST00000324631.11:c.1635_1639dup (CACNB2)	ENSP00000320025.7:p.Arg547GlnfsTer24
ENST00000352115.10:c.1563_1567dup (CACNB2)	ENSP00000344474.6:p.Arg523GlnfsTer24
ENST00000377315.4:c.1491_1495dup (CACNB2)	ENSP00000366532.4:p.Arg499GlnfsTer24
ENST00000377319.7:c.1356_1360dup (CACNB2)	ENSP00000366536.3:p.Arg454GlnfsTer24
ENST00000377328.5:c.885_889dup (CACNB2)	ENSP00000366545.1:p.Arg297GlnfsTer24
ENST00000377329.8:c.1473_1477dup (CACNB2)	ENSP00000366546.4:p.Arg493GlnfsTer24
ENST00000377331.6:c.1479_1483dup (CACNB2)	ENSP00000366548.2:p.Arg495GlnfsTer24
ENST00000396576.6:c.1470_1474dup (CACNB2)	ENSP00000379821.2:p.Arg492GlnfsTer24
ENST00000612134.4:c.1339_1343dup (CACNB2)	ENSP00000480563.1:n.1339_1343dup
ENST00000612743.1:c.147_151dup (CACNB2)	ENSP00000478676.1:p.Arg51GlnfsTer24
ENST00000615785.4:c.720_724dup (CACNB2)	ENSP00000480260.1:p.Arg242GlnfsTer24
ENST00000617363.4:c.1398_1402dup (CACNB2)	ENSP00000479756.1:p.Arg468GlnfsTer24
NM_000724.3:c.1470_1474dup (CACNB2)	NP_000715.2:p.Arg492GlnfsTer24
NM_001167945.1:c.1437_1441dup (CACNB2)	NP_001161417.1:p.Arg481GlnfsTer24
NM_201570.2:c.1491_1495dup (CACNB2)	NP_963864.1:p.Arg499GlnfsTer24
NM_201571.3:c.1551_1555dup (CACNB2)	NP_963865.2:p.Arg519GlnfsTer24
NM_201572.3:c.1479_1483dup (CACNB2)	NP_963866.2:p.Arg495GlnfsTer24
NM_201590.2:c.1473_1477dup (CACNB2)	NP_963884.2:p.Arg493GlnfsTer24
NM_201593.2:c.1521_1525dup (CACNB2)	NP_963887.2:p.Arg509GlnfsTer24
NM_201596.2:c.1635_1639dup (CACNB2)	NP_963890.2:p.Arg547GlnfsTer24
NM_201597.2:c.1563_1567dup (CACNB2)	NP_963891.1:p.Arg523GlnfsTer24
XM_005252588.2:c.1377_1381dup (CACNB2)	XP_005252645.1:p.Arg461GlnfsTer24
XM_005252591.2:c.795_799dup (CACNB2)	XP_005252648.1:p.Arg267GlnfsTer24
XM_006717502.2:c.1455_1459dup (CACNB2)	XP_006717565.1:p.Arg487GlnfsTer24
XM_011519659.1:c.1401_1405dup (CACNB2)	XP_011517961.1:p.Arg469GlnfsTer24
XM_011519660.1:c.1356_1360dup (CACNB2)	XP_011517962.1:p.Arg454GlnfsTer24
NM_001330060.1:c.1356_1360dup (CACNB2)	NP_001316989.1:p.Arg454GlnfsTer24
XM_005252588.4:c.1377_1381dup (CACNB2)	XP_005252645.1:p.Arg461GlnfsTer24
XM_005252591.3:c.795_799dup (CACNB2)	XP_005252648.1:p.Arg267GlnfsTer24
XM_006717502.3:c.1455_1459dup (CACNB2)	XP_006717565.1:p.Arg487GlnfsTer24
XM_011519659.2:c.1401_1405dup (CACNB2)	XP_011517961.1:p.Arg469GlnfsTer24
XM_017016625.1:c.795_799dup (CACNB2)	XP_016872114.1:p.Arg267GlnfsTer24
XR_001747060.1:n.2423+2690_2423+2694dup (NSUN6)
XR_001747198.1:n.1760_1764dup (CACNB2)
NM_000724.4:c.1470_1474dup (CACNB2)	NP_000715.2:p.Arg492GlnfsTer24
NM_001167945.2:c.1437_1441dup (CACNB2)	NP_001161417.1:p.Arg481GlnfsTer24
NM_001330060.2:c.1356_1360dup (CACNB2)	NP_001316989.1:p.Arg454GlnfsTer24
NM_201570.3:c.1491_1495dup (CACNB2)	NP_963864.1:p.Arg499GlnfsTer24
NM_201571.4:c.1551_1555dup (CACNB2)	NP_963865.2:p.Arg519GlnfsTer24
NM_201572.4:c.1479_1483dup (CACNB2)	NP_963866.2:p.Arg495GlnfsTer24
NM_201590.3:c.1473_1477dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg493GlnfsTer24
NM_201593.3:c.1521_1525dup (CACNB2)	NP_963887.2:p.Arg509GlnfsTer24
NM_201596.3:c.1635_1639dup (CACNB2) MANE Select	NP_963890.2:p.Arg547GlnfsTer24
NM_201597.3:c.1563_1567dup (CACNB2)	NP_963891.1:p.Arg523GlnfsTer24