Canonical Allele Identifier: CA662520394

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs1282534470
• MyVariant Identifiers: chr10:g.18828325_18828326insAGAG (hg19) ; chr10:g.18539396_18539397insAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539398_18539401dup , CM000672.2:g.18539398_18539401dup	GRCh38
NC_000010.10:g.18828327_18828330dup , CM000672.1:g.18828327_18828330dup	GRCh37
NC_000010.9:g.18868333_18868336dup	NCBI36
NG_016195.1:g.403722_403725dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1513_1516dup (CACNB2)	ENSP00000366532.4:p.Thr506ArgfsTer4
ENST00000377319.9:c.1378_1381dup (CACNB2)	ENSP00000366536.3:p.Thr461ArgfsTer4
ENST00000645287.2:c.1501_1504dup (CACNB2)	ENSP00000496203.1:p.Thr502ArgfsTer4
ENST00000282343.13:c.1573_1576dup (CACNB2)	ENSP00000282343.8:p.Thr526ArgfsTer4
ENST00000324631.13:c.1657_1660dup (CACNB2) MANE Select	ENSP00000320025.8:p.Thr554ArgfsTer4
ENST00000377315.5:c.1513_1516dup (CACNB2)	ENSP00000366532.4:p.Thr506ArgfsTer4
ENST00000377319.8:c.1378_1381dup (CACNB2)	ENSP00000366536.3:p.Thr461ArgfsTer4
ENST00000377329.10:c.1495_1498dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Thr500ArgfsTer4
ENST00000377331.8:c.1282_1285dup (CACNB2)	ENSP00000366548.4:p.Thr429ArgfsTer4
ENST00000643096.2:c.1459_1462dup (CACNB2)	ENSP00000494209.2:p.Thr488ArgfsTer4
ENST00000645287.1:c.1501_1504dup (CACNB2)	ENSP00000496203.1:p.Thr502ArgfsTer4
ENST00000647168.2:c.*798_*801dup (CACNB2)	ENSP00000495854.2:n.*798_*801dup
ENST00000650685.1:c.1399_1402dup (CACNB2)	ENSP00000498460.1:p.Thr468ArgfsTer4
ENST00000651330.1:c.*931_*934dup (CACNB2)	ENSP00000498457.1:n.*931_*934dup
ENST00000651468.1:c.1214_1217dup (CACNB2)	ENSP00000498352.1:n.1214_1217dup
ENST00000651928.1:c.*896_*899dup (CACNB2)	ENSP00000499177.1:n.*896_*899dup
ENST00000652391.1:c.1477_1480dup (CACNB2)	ENSP00000498938.1:p.Thr494ArgfsTer4
ENST00000652478.1:c.*757_*760dup (CACNB2)	ENSP00000498812.1:n.*757_*760dup
ENST00000282343.12:c.1573_1576dup (CACNB2)	ENSP00000282343.8:p.Thr526ArgfsTer4
ENST00000324631.11:c.1657_1660dup (CACNB2)	ENSP00000320025.7:p.Thr554ArgfsTer4
ENST00000352115.10:c.1585_1588dup (CACNB2)	ENSP00000344474.6:p.Thr530ArgfsTer4
ENST00000377315.4:c.1513_1516dup (CACNB2)	ENSP00000366532.4:p.Thr506ArgfsTer4
ENST00000377319.7:c.1378_1381dup (CACNB2)	ENSP00000366536.3:p.Thr461ArgfsTer4
ENST00000377328.5:c.907_910dup (CACNB2)	ENSP00000366545.1:p.Thr304ArgfsTer4
ENST00000377329.8:c.1495_1498dup (CACNB2)	ENSP00000366546.4:p.Thr500ArgfsTer4
ENST00000377331.6:c.1501_1504dup (CACNB2)	ENSP00000366548.2:p.Thr502ArgfsTer4
ENST00000396576.6:c.1492_1495dup (CACNB2)	ENSP00000379821.2:p.Thr499ArgfsTer4
ENST00000612134.4:c.1361_1364dup (CACNB2)	ENSP00000480563.1:n.1361_1364dup
ENST00000612743.1:c.169_172dup (CACNB2)	ENSP00000478676.1:p.Thr58ArgfsTer4
ENST00000615785.4:c.742_745dup (CACNB2)	ENSP00000480260.1:p.Thr249ArgfsTer4
ENST00000617363.4:c.1420_1423dup (CACNB2)	ENSP00000479756.1:p.Thr475ArgfsTer4
NM_000724.3:c.1492_1495dup (CACNB2)	NP_000715.2:p.Thr499ArgfsTer4
NM_001167945.1:c.1459_1462dup (CACNB2)	NP_001161417.1:p.Thr488ArgfsTer4
NM_201570.2:c.1513_1516dup (CACNB2)	NP_963864.1:p.Thr506ArgfsTer4
NM_201571.3:c.1573_1576dup (CACNB2)	NP_963865.2:p.Thr526ArgfsTer4
NM_201572.3:c.1501_1504dup (CACNB2)	NP_963866.2:p.Thr502ArgfsTer4
NM_201590.2:c.1495_1498dup (CACNB2)	NP_963884.2:p.Thr500ArgfsTer4
NM_201593.2:c.1543_1546dup (CACNB2)	NP_963887.2:p.Thr516ArgfsTer4
NM_201596.2:c.1657_1660dup (CACNB2)	NP_963890.2:p.Thr554ArgfsTer4
NM_201597.2:c.1585_1588dup (CACNB2)	NP_963891.1:p.Thr530ArgfsTer4
XM_005252588.2:c.1399_1402dup (CACNB2)	XP_005252645.1:p.Thr468ArgfsTer4
XM_005252591.2:c.817_820dup (CACNB2)	XP_005252648.1:p.Thr274ArgfsTer4
XM_006717502.2:c.1477_1480dup (CACNB2)	XP_006717565.1:p.Thr494ArgfsTer4
XM_011519659.1:c.1423_1426dup (CACNB2)	XP_011517961.1:p.Thr476ArgfsTer4
XM_011519660.1:c.1378_1381dup (CACNB2)	XP_011517962.1:p.Thr461ArgfsTer4
NM_001330060.1:c.1378_1381dup (CACNB2)	NP_001316989.1:p.Thr461ArgfsTer4
XM_005252588.4:c.1399_1402dup (CACNB2)	XP_005252645.1:p.Thr468ArgfsTer4
XM_005252591.3:c.817_820dup (CACNB2)	XP_005252648.1:p.Thr274ArgfsTer4
XM_006717502.3:c.1477_1480dup (CACNB2)	XP_006717565.1:p.Thr494ArgfsTer4
XM_011519659.2:c.1423_1426dup (CACNB2)	XP_011517961.1:p.Thr476ArgfsTer4
XM_017016625.1:c.817_820dup (CACNB2)	XP_016872114.1:p.Thr274ArgfsTer4
XR_001747060.1:n.2423+2669_2423+2672dup (NSUN6)
XR_001747198.1:n.1782_1785dup (CACNB2)
NM_000724.4:c.1492_1495dup (CACNB2)	NP_000715.2:p.Thr499ArgfsTer4
NM_001167945.2:c.1459_1462dup (CACNB2)	NP_001161417.1:p.Thr488ArgfsTer4
NM_001330060.2:c.1378_1381dup (CACNB2)	NP_001316989.1:p.Thr461ArgfsTer4
NM_201570.3:c.1513_1516dup (CACNB2)	NP_963864.1:p.Thr506ArgfsTer4
NM_201571.4:c.1573_1576dup (CACNB2)	NP_963865.2:p.Thr526ArgfsTer4
NM_201572.4:c.1501_1504dup (CACNB2)	NP_963866.2:p.Thr502ArgfsTer4
NM_201590.3:c.1495_1498dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Thr500ArgfsTer4
NM_201593.3:c.1543_1546dup (CACNB2)	NP_963887.2:p.Thr516ArgfsTer4
NM_201596.3:c.1657_1660dup (CACNB2) MANE Select	NP_963890.2:p.Thr554ArgfsTer4
NM_201597.3:c.1585_1588dup (CACNB2)	NP_963891.1:p.Thr530ArgfsTer4