Canonical Allele Identifier: CA1894173319

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs2053927123

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539422_18539424del , CM000672.2:g.18539422_18539424del	GRCh38
NC_000010.10:g.18828351_18828353del , CM000672.1:g.18828351_18828353del	GRCh37
NC_000010.9:g.18868357_18868359del	NCBI36
NG_016195.1:g.403746_403748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1537_1539del (CACNB2)	ENSP00000366532.4:p.Glu513del
ENST00000377319.9:c.1402_1404del (CACNB2)	ENSP00000366536.3:p.Glu468del
ENST00000645287.2:c.1525_1527del (CACNB2)	ENSP00000496203.1:p.Glu509del
ENST00000282343.13:c.1597_1599del (CACNB2)	ENSP00000282343.8:p.Glu533del
ENST00000324631.13:c.1681_1683del (CACNB2) MANE Select	ENSP00000320025.8:p.Glu561del
ENST00000377315.5:c.1537_1539del (CACNB2)	ENSP00000366532.4:p.Glu513del
ENST00000377319.8:c.1402_1404del (CACNB2)	ENSP00000366536.3:p.Glu468del
ENST00000377329.10:c.1519_1521del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu507del
ENST00000377331.8:c.1306_1308del (CACNB2)	ENSP00000366548.4:p.Glu436del
ENST00000643096.2:c.1483_1485del (CACNB2)	ENSP00000494209.2:p.Glu495del
ENST00000645287.1:c.1525_1527del (CACNB2)	ENSP00000496203.1:p.Glu509del
ENST00000647168.2:c.*822_*824del (CACNB2)	ENSP00000495854.2:n.*822_*824del
ENST00000650685.1:c.1423_1425del (CACNB2)	ENSP00000498460.1:p.Glu475del
ENST00000651330.1:c.*955_*957del (CACNB2)	ENSP00000498457.1:n.*955_*957del
ENST00000651468.1:c.1238_1240del (CACNB2)	ENSP00000498352.1:n.1238_1240del
ENST00000651928.1:c.*920_*922del (CACNB2)	ENSP00000499177.1:n.*920_*922del
ENST00000652391.1:c.1501_1503del (CACNB2)	ENSP00000498938.1:p.Glu501del
ENST00000652478.1:c.*781_*783del (CACNB2)	ENSP00000498812.1:n.*781_*783del
ENST00000282343.12:c.1597_1599del (CACNB2)	ENSP00000282343.8:p.Glu533del
ENST00000324631.11:c.1681_1683del (CACNB2)	ENSP00000320025.7:p.Glu561del
ENST00000352115.10:c.1609_1611del (CACNB2)	ENSP00000344474.6:p.Glu537del
ENST00000377315.4:c.1537_1539del (CACNB2)	ENSP00000366532.4:p.Glu513del
ENST00000377319.7:c.1402_1404del (CACNB2)	ENSP00000366536.3:p.Glu468del
ENST00000377328.5:c.931_933del (CACNB2)	ENSP00000366545.1:p.Glu311del
ENST00000377329.8:c.1519_1521del (CACNB2)	ENSP00000366546.4:p.Glu507del
ENST00000377331.6:c.1525_1527del (CACNB2)	ENSP00000366548.2:p.Glu509del
ENST00000396576.6:c.1516_1518del (CACNB2)	ENSP00000379821.2:p.Glu506del
ENST00000612134.4:c.1385_1387del (CACNB2)	ENSP00000480563.1:n.1385_1387del
ENST00000612743.1:c.193_195del (CACNB2)	ENSP00000478676.1:p.Glu65del
ENST00000615785.4:c.766_768del (CACNB2)	ENSP00000480260.1:p.Glu256del
ENST00000617363.4:c.1444_1446del (CACNB2)	ENSP00000479756.1:p.Glu482del
NM_000724.3:c.1516_1518del (CACNB2)	NP_000715.2:p.Glu506del
NM_001167945.1:c.1483_1485del (CACNB2)	NP_001161417.1:p.Glu495del
NM_201570.2:c.1537_1539del (CACNB2)	NP_963864.1:p.Glu513del
NM_201571.3:c.1597_1599del (CACNB2)	NP_963865.2:p.Glu533del
NM_201572.3:c.1525_1527del (CACNB2)	NP_963866.2:p.Glu509del
NM_201590.2:c.1519_1521del (CACNB2)	NP_963884.2:p.Glu507del
NM_201593.2:c.1567_1569del (CACNB2)	NP_963887.2:p.Glu523del
NM_201596.2:c.1681_1683del (CACNB2)	NP_963890.2:p.Glu561del
NM_201597.2:c.1609_1611del (CACNB2)	NP_963891.1:p.Glu537del
XM_005252588.2:c.1423_1425del (CACNB2)	XP_005252645.1:p.Glu475del
XM_005252591.2:c.841_843del (CACNB2)	XP_005252648.1:p.Glu281del
XM_006717502.2:c.1501_1503del (CACNB2)	XP_006717565.1:p.Glu501del
XM_011519659.1:c.1447_1449del (CACNB2)	XP_011517961.1:p.Glu483del
XM_011519660.1:c.1402_1404del (CACNB2)	XP_011517962.1:p.Glu468del
NM_001330060.1:c.1402_1404del (CACNB2)	NP_001316989.1:p.Glu468del
XM_005252588.4:c.1423_1425del (CACNB2)	XP_005252645.1:p.Glu475del
XM_005252591.3:c.841_843del (CACNB2)	XP_005252648.1:p.Glu281del
XM_006717502.3:c.1501_1503del (CACNB2)	XP_006717565.1:p.Glu501del
XM_011519659.2:c.1447_1449del (CACNB2)	XP_011517961.1:p.Glu483del
XM_017016625.1:c.841_843del (CACNB2)	XP_016872114.1:p.Glu281del
XR_001747060.1:n.2423+2647_2423+2649del (NSUN6)
XR_001747198.1:n.1806_1808del (CACNB2)
NM_000724.4:c.1516_1518del (CACNB2)	NP_000715.2:p.Glu506del
NM_001167945.2:c.1483_1485del (CACNB2)	NP_001161417.1:p.Glu495del
NM_001330060.2:c.1402_1404del (CACNB2)	NP_001316989.1:p.Glu468del
NM_201570.3:c.1537_1539del (CACNB2)	NP_963864.1:p.Glu513del
NM_201571.4:c.1597_1599del (CACNB2)	NP_963865.2:p.Glu533del
NM_201572.4:c.1525_1527del (CACNB2)	NP_963866.2:p.Glu509del
NM_201590.3:c.1519_1521del (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu507del
NM_201593.3:c.1567_1569del (CACNB2)	NP_963887.2:p.Glu523del
NM_201596.3:c.1681_1683del (CACNB2) MANE Select	NP_963890.2:p.Glu561del
NM_201597.3:c.1609_1611del (CACNB2)	NP_963891.1:p.Glu537del