Canonical Allele Identifier: CA1894173570

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539488G= , CM000672.2:g.18539488G=	GRCh38
NC_000010.10:g.18828417G= , CM000672.1:g.18828417G=	GRCh37
NC_000010.9:g.18868423G=	NCBI36
NG_016195.1:g.403812G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1603G= (CACNB2)	ENSP00000366532.4:p.Ala535=
ENST00000377319.9:c.1468G= (CACNB2)	ENSP00000366536.3:p.Ala490=
ENST00000645287.2:c.1591G= (CACNB2)	ENSP00000496203.1:p.Ala531=
ENST00000282343.13:c.1663G= (CACNB2)	ENSP00000282343.8:p.Ala555=
ENST00000324631.13:c.1747G= (CACNB2) MANE Select	ENSP00000320025.8:p.Ala583=
ENST00000377315.5:c.1603G= (CACNB2)	ENSP00000366532.4:p.Ala535=
ENST00000377319.8:c.1468G= (CACNB2)	ENSP00000366536.3:p.Ala490=
ENST00000377329.10:c.1585G= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ala529=
ENST00000377331.8:c.1372G= (CACNB2)	ENSP00000366548.4:p.Ala458=
ENST00000643096.2:c.1549G= (CACNB2)	ENSP00000494209.2:p.Ala517=
ENST00000645287.1:c.1591G= (CACNB2)	ENSP00000496203.1:p.Ala531=
ENST00000647168.2:c.*888G= (CACNB2)	ENSP00000495854.2:n.*888G=
ENST00000650685.1:c.1489G= (CACNB2)	ENSP00000498460.1:p.Ala497=
ENST00000651330.1:c.*1021G= (CACNB2)	ENSP00000498457.1:n.*1021G=
ENST00000651468.1:c.1304G= (CACNB2)	ENSP00000498352.1:n.1304G=
ENST00000651928.1:c.*986G= (CACNB2)	ENSP00000499177.1:n.*986G=
ENST00000652391.1:c.1567G= (CACNB2)	ENSP00000498938.1:p.Ala523=
ENST00000652478.1:c.*847G= (CACNB2)	ENSP00000498812.1:n.*847G=
ENST00000282343.12:c.1663G= (CACNB2)	ENSP00000282343.8:p.Ala555=
ENST00000324631.11:c.1747G= (CACNB2)	ENSP00000320025.7:p.Ala583=
ENST00000352115.10:c.1675G= (CACNB2)	ENSP00000344474.6:p.Ala559=
ENST00000377315.4:c.1603G= (CACNB2)	ENSP00000366532.4:p.Ala535=
ENST00000377319.7:c.1468G= (CACNB2)	ENSP00000366536.3:p.Ala490=
ENST00000377328.5:c.997G= (CACNB2)	ENSP00000366545.1:p.Ala333=
ENST00000377329.8:c.1585G= (CACNB2)	ENSP00000366546.4:p.Ala529=
ENST00000377331.6:c.1591G= (CACNB2)	ENSP00000366548.2:p.Ala531=
ENST00000396576.6:c.1582G= (CACNB2)	ENSP00000379821.2:p.Ala528=
ENST00000612134.4:c.1451G= (CACNB2)	ENSP00000480563.1:n.1451G=
ENST00000612743.1:c.259G= (CACNB2)	ENSP00000478676.1:p.Ala87=
ENST00000615785.4:c.832G= (CACNB2)	ENSP00000480260.1:p.Ala278=
ENST00000617363.4:c.1510G= (CACNB2)	ENSP00000479756.1:p.Ala504=
NM_000724.3:c.1582G= (CACNB2)	NP_000715.2:p.Ala528=
NM_001167945.1:c.1549G= (CACNB2)	NP_001161417.1:p.Ala517=
NM_201570.2:c.1603G= (CACNB2)	NP_963864.1:p.Ala535=
NM_201571.3:c.1663G= (CACNB2)	NP_963865.2:p.Ala555=
NM_201572.3:c.1591G= (CACNB2)	NP_963866.2:p.Ala531=
NM_201590.2:c.1585G= (CACNB2)	NP_963884.2:p.Ala529=
NM_201593.2:c.1633G= (CACNB2)	NP_963887.2:p.Ala545=
NM_201596.2:c.1747G= (CACNB2)	NP_963890.2:p.Ala583=
NM_201597.2:c.1675G= (CACNB2)	NP_963891.1:p.Ala559=
XM_005252588.2:c.1489G= (CACNB2)	XP_005252645.1:p.Ala497=
XM_005252591.2:c.907G= (CACNB2)	XP_005252648.1:p.Ala303=
XM_006717502.2:c.1567G= (CACNB2)	XP_006717565.1:p.Ala523=
XM_011519659.1:c.1513G= (CACNB2)	XP_011517961.1:p.Ala505=
XM_011519660.1:c.1468G= (CACNB2)	XP_011517962.1:p.Ala490=
NM_001330060.1:c.1468G= (CACNB2)	NP_001316989.1:p.Ala490=
XM_005252588.4:c.1489G= (CACNB2)	XP_005252645.1:p.Ala497=
XM_005252591.3:c.907G= (CACNB2)	XP_005252648.1:p.Ala303=
XM_006717502.3:c.1567G= (CACNB2)	XP_006717565.1:p.Ala523=
XM_011519659.2:c.1513G= (CACNB2)	XP_011517961.1:p.Ala505=
XM_017016625.1:c.907G= (CACNB2)	XP_016872114.1:p.Ala303=
XR_001747060.1:n.2423+2581C= (NSUN6)
XR_001747198.1:n.1872G= (CACNB2)
NM_000724.4:c.1582G= (CACNB2)	NP_000715.2:p.Ala528=
NM_001167945.2:c.1549G= (CACNB2)	NP_001161417.1:p.Ala517=
NM_001330060.2:c.1468G= (CACNB2)	NP_001316989.1:p.Ala490=
NM_201570.3:c.1603G= (CACNB2)	NP_963864.1:p.Ala535=
NM_201571.4:c.1663G= (CACNB2)	NP_963865.2:p.Ala555=
NM_201572.4:c.1591G= (CACNB2)	NP_963866.2:p.Ala531=
NM_201590.3:c.1585G= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ala529=
NM_201593.3:c.1633G= (CACNB2)	NP_963887.2:p.Ala545=
NM_201596.3:c.1747G= (CACNB2) MANE Select	NP_963890.2:p.Ala583=
NM_201597.3:c.1675G= (CACNB2)	NP_963891.1:p.Ala559=