Canonical Allele Identifier: CA1894173278

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539394G= , CM000672.2:g.18539394G=	GRCh38
NC_000010.10:g.18828323G= , CM000672.1:g.18828323G=	GRCh37
NC_000010.9:g.18868329G=	NCBI36
NG_016195.1:g.403718G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1509G= (CACNB2)	ENSP00000366532.4:p.Arg503=
ENST00000377319.9:c.1374G= (CACNB2)	ENSP00000366536.3:p.Arg458=
ENST00000645287.2:c.1497G= (CACNB2)	ENSP00000496203.1:p.Arg499=
ENST00000282343.13:c.1569G= (CACNB2)	ENSP00000282343.8:p.Arg523=
ENST00000324631.13:c.1653G= (CACNB2) MANE Select	ENSP00000320025.8:p.Arg551=
ENST00000377315.5:c.1509G= (CACNB2)	ENSP00000366532.4:p.Arg503=
ENST00000377319.8:c.1374G= (CACNB2)	ENSP00000366536.3:p.Arg458=
ENST00000377329.10:c.1491G= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg497=
ENST00000377331.8:c.1278G= (CACNB2)	ENSP00000366548.4:p.Arg426=
ENST00000643096.2:c.1455G= (CACNB2)	ENSP00000494209.2:p.Arg485=
ENST00000645287.1:c.1497G= (CACNB2)	ENSP00000496203.1:p.Arg499=
ENST00000647168.2:c.*794G= (CACNB2)	ENSP00000495854.2:n.*794G=
ENST00000650685.1:c.1395G= (CACNB2)	ENSP00000498460.1:p.Arg465=
ENST00000651330.1:c.*927G= (CACNB2)	ENSP00000498457.1:n.*927G=
ENST00000651468.1:c.1210G= (CACNB2)	ENSP00000498352.1:n.1210G=
ENST00000651928.1:c.*892G= (CACNB2)	ENSP00000499177.1:n.*892G=
ENST00000652391.1:c.1473G= (CACNB2)	ENSP00000498938.1:p.Arg491=
ENST00000652478.1:c.*753G= (CACNB2)	ENSP00000498812.1:n.*753G=
ENST00000282343.12:c.1569G= (CACNB2)	ENSP00000282343.8:p.Arg523=
ENST00000324631.11:c.1653G= (CACNB2)	ENSP00000320025.7:p.Arg551=
ENST00000352115.10:c.1581G= (CACNB2)	ENSP00000344474.6:p.Arg527=
ENST00000377315.4:c.1509G= (CACNB2)	ENSP00000366532.4:p.Arg503=
ENST00000377319.7:c.1374G= (CACNB2)	ENSP00000366536.3:p.Arg458=
ENST00000377328.5:c.903G= (CACNB2)	ENSP00000366545.1:p.Arg301=
ENST00000377329.8:c.1491G= (CACNB2)	ENSP00000366546.4:p.Arg497=
ENST00000377331.6:c.1497G= (CACNB2)	ENSP00000366548.2:p.Arg499=
ENST00000396576.6:c.1488G= (CACNB2)	ENSP00000379821.2:p.Arg496=
ENST00000612134.4:c.1357G= (CACNB2)	ENSP00000480563.1:n.1357G=
ENST00000612743.1:c.165G= (CACNB2)	ENSP00000478676.1:p.Arg55=
ENST00000615785.4:c.738G= (CACNB2)	ENSP00000480260.1:p.Arg246=
ENST00000617363.4:c.1416G= (CACNB2)	ENSP00000479756.1:p.Arg472=
NM_000724.3:c.1488G= (CACNB2)	NP_000715.2:p.Arg496=
NM_001167945.1:c.1455G= (CACNB2)	NP_001161417.1:p.Arg485=
NM_201570.2:c.1509G= (CACNB2)	NP_963864.1:p.Arg503=
NM_201571.3:c.1569G= (CACNB2)	NP_963865.2:p.Arg523=
NM_201572.3:c.1497G= (CACNB2)	NP_963866.2:p.Arg499=
NM_201590.2:c.1491G= (CACNB2)	NP_963884.2:p.Arg497=
NM_201593.2:c.1539G= (CACNB2)	NP_963887.2:p.Arg513=
NM_201596.2:c.1653G= (CACNB2)	NP_963890.2:p.Arg551=
NM_201597.2:c.1581G= (CACNB2)	NP_963891.1:p.Arg527=
XM_005252588.2:c.1395G= (CACNB2)	XP_005252645.1:p.Arg465=
XM_005252591.2:c.813G= (CACNB2)	XP_005252648.1:p.Arg271=
XM_006717502.2:c.1473G= (CACNB2)	XP_006717565.1:p.Arg491=
XM_011519659.1:c.1419G= (CACNB2)	XP_011517961.1:p.Arg473=
XM_011519660.1:c.1374G= (CACNB2)	XP_011517962.1:p.Arg458=
NM_001330060.1:c.1374G= (CACNB2)	NP_001316989.1:p.Arg458=
XM_005252588.4:c.1395G= (CACNB2)	XP_005252645.1:p.Arg465=
XM_005252591.3:c.813G= (CACNB2)	XP_005252648.1:p.Arg271=
XM_006717502.3:c.1473G= (CACNB2)	XP_006717565.1:p.Arg491=
XM_011519659.2:c.1419G= (CACNB2)	XP_011517961.1:p.Arg473=
XM_017016625.1:c.813G= (CACNB2)	XP_016872114.1:p.Arg271=
XR_001747060.1:n.2423+2675C= (NSUN6)
XR_001747198.1:n.1778G= (CACNB2)
NM_000724.4:c.1488G= (CACNB2)	NP_000715.2:p.Arg496=
NM_001167945.2:c.1455G= (CACNB2)	NP_001161417.1:p.Arg485=
NM_001330060.2:c.1374G= (CACNB2)	NP_001316989.1:p.Arg458=
NM_201570.3:c.1509G= (CACNB2)	NP_963864.1:p.Arg503=
NM_201571.4:c.1569G= (CACNB2)	NP_963865.2:p.Arg523=
NM_201572.4:c.1497G= (CACNB2)	NP_963866.2:p.Arg499=
NM_201590.3:c.1491G= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg497=
NM_201593.3:c.1539G= (CACNB2)	NP_963887.2:p.Arg513=
NM_201596.3:c.1653G= (CACNB2) MANE Select	NP_963890.2:p.Arg551=
NM_201597.3:c.1581G= (CACNB2)	NP_963891.1:p.Arg527=