Canonical Allele Identifier: CA1894173323

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539422G= , CM000672.2:g.18539422G=	GRCh38
NC_000010.10:g.18828351G= , CM000672.1:g.18828351G=	GRCh37
NC_000010.9:g.18868357G=	NCBI36
NG_016195.1:g.403746G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1537G= (CACNB2)	ENSP00000366532.4:p.Glu513=
ENST00000377319.9:c.1402G= (CACNB2)	ENSP00000366536.3:p.Glu468=
ENST00000645287.2:c.1525G= (CACNB2)	ENSP00000496203.1:p.Glu509=
ENST00000282343.13:c.1597G= (CACNB2)	ENSP00000282343.8:p.Glu533=
ENST00000324631.13:c.1681G= (CACNB2) MANE Select	ENSP00000320025.8:p.Glu561=
ENST00000377315.5:c.1537G= (CACNB2)	ENSP00000366532.4:p.Glu513=
ENST00000377319.8:c.1402G= (CACNB2)	ENSP00000366536.3:p.Glu468=
ENST00000377329.10:c.1519G= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu507=
ENST00000377331.8:c.1306G= (CACNB2)	ENSP00000366548.4:p.Glu436=
ENST00000643096.2:c.1483G= (CACNB2)	ENSP00000494209.2:p.Glu495=
ENST00000645287.1:c.1525G= (CACNB2)	ENSP00000496203.1:p.Glu509=
ENST00000647168.2:c.*822G= (CACNB2)	ENSP00000495854.2:n.*822G=
ENST00000650685.1:c.1423G= (CACNB2)	ENSP00000498460.1:p.Glu475=
ENST00000651330.1:c.*955G= (CACNB2)	ENSP00000498457.1:n.*955G=
ENST00000651468.1:c.1238G= (CACNB2)	ENSP00000498352.1:n.1238G=
ENST00000651928.1:c.*920G= (CACNB2)	ENSP00000499177.1:n.*920G=
ENST00000652391.1:c.1501G= (CACNB2)	ENSP00000498938.1:p.Glu501=
ENST00000652478.1:c.*781G= (CACNB2)	ENSP00000498812.1:n.*781G=
ENST00000282343.12:c.1597G= (CACNB2)	ENSP00000282343.8:p.Glu533=
ENST00000324631.11:c.1681G= (CACNB2)	ENSP00000320025.7:p.Glu561=
ENST00000352115.10:c.1609G= (CACNB2)	ENSP00000344474.6:p.Glu537=
ENST00000377315.4:c.1537G= (CACNB2)	ENSP00000366532.4:p.Glu513=
ENST00000377319.7:c.1402G= (CACNB2)	ENSP00000366536.3:p.Glu468=
ENST00000377328.5:c.931G= (CACNB2)	ENSP00000366545.1:p.Glu311=
ENST00000377329.8:c.1519G= (CACNB2)	ENSP00000366546.4:p.Glu507=
ENST00000377331.6:c.1525G= (CACNB2)	ENSP00000366548.2:p.Glu509=
ENST00000396576.6:c.1516G= (CACNB2)	ENSP00000379821.2:p.Glu506=
ENST00000612134.4:c.1385G= (CACNB2)	ENSP00000480563.1:n.1385G=
ENST00000612743.1:c.193G= (CACNB2)	ENSP00000478676.1:p.Glu65=
ENST00000615785.4:c.766G= (CACNB2)	ENSP00000480260.1:p.Glu256=
ENST00000617363.4:c.1444G= (CACNB2)	ENSP00000479756.1:p.Glu482=
NM_000724.3:c.1516G= (CACNB2)	NP_000715.2:p.Glu506=
NM_001167945.1:c.1483G= (CACNB2)	NP_001161417.1:p.Glu495=
NM_201570.2:c.1537G= (CACNB2)	NP_963864.1:p.Glu513=
NM_201571.3:c.1597G= (CACNB2)	NP_963865.2:p.Glu533=
NM_201572.3:c.1525G= (CACNB2)	NP_963866.2:p.Glu509=
NM_201590.2:c.1519G= (CACNB2)	NP_963884.2:p.Glu507=
NM_201593.2:c.1567G= (CACNB2)	NP_963887.2:p.Glu523=
NM_201596.2:c.1681G= (CACNB2)	NP_963890.2:p.Glu561=
NM_201597.2:c.1609G= (CACNB2)	NP_963891.1:p.Glu537=
XM_005252588.2:c.1423G= (CACNB2)	XP_005252645.1:p.Glu475=
XM_005252591.2:c.841G= (CACNB2)	XP_005252648.1:p.Glu281=
XM_006717502.2:c.1501G= (CACNB2)	XP_006717565.1:p.Glu501=
XM_011519659.1:c.1447G= (CACNB2)	XP_011517961.1:p.Glu483=
XM_011519660.1:c.1402G= (CACNB2)	XP_011517962.1:p.Glu468=
NM_001330060.1:c.1402G= (CACNB2)	NP_001316989.1:p.Glu468=
XM_005252588.4:c.1423G= (CACNB2)	XP_005252645.1:p.Glu475=
XM_005252591.3:c.841G= (CACNB2)	XP_005252648.1:p.Glu281=
XM_006717502.3:c.1501G= (CACNB2)	XP_006717565.1:p.Glu501=
XM_011519659.2:c.1447G= (CACNB2)	XP_011517961.1:p.Glu483=
XM_017016625.1:c.841G= (CACNB2)	XP_016872114.1:p.Glu281=
XR_001747060.1:n.2423+2647C= (NSUN6)
XR_001747198.1:n.1806G= (CACNB2)
NM_000724.4:c.1516G= (CACNB2)	NP_000715.2:p.Glu506=
NM_001167945.2:c.1483G= (CACNB2)	NP_001161417.1:p.Glu495=
NM_001330060.2:c.1402G= (CACNB2)	NP_001316989.1:p.Glu468=
NM_201570.3:c.1537G= (CACNB2)	NP_963864.1:p.Glu513=
NM_201571.4:c.1597G= (CACNB2)	NP_963865.2:p.Glu533=
NM_201572.4:c.1525G= (CACNB2)	NP_963866.2:p.Glu509=
NM_201590.3:c.1519G= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu507=
NM_201593.3:c.1567G= (CACNB2)	NP_963887.2:p.Glu523=
NM_201596.3:c.1681G= (CACNB2) MANE Select	NP_963890.2:p.Glu561=
NM_201597.3:c.1609G= (CACNB2)	NP_963891.1:p.Glu537=