Canonical Allele Identifier: CA1894173190

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539362C= , CM000672.2:g.18539362C=	GRCh38
NC_000010.10:g.18828291C= , CM000672.1:g.18828291C=	GRCh37
NC_000010.9:g.18868297C=	NCBI36
NG_016195.1:g.403686C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1477C= (CACNB2)	ENSP00000366532.4:p.His493=
ENST00000377319.9:c.1342C= (CACNB2)	ENSP00000366536.3:p.His448=
ENST00000645287.2:c.1465C= (CACNB2)	ENSP00000496203.1:p.His489=
ENST00000282343.13:c.1537C= (CACNB2)	ENSP00000282343.8:p.His513=
ENST00000324631.13:c.1621C= (CACNB2) MANE Select	ENSP00000320025.8:p.His541=
ENST00000377315.5:c.1477C= (CACNB2)	ENSP00000366532.4:p.His493=
ENST00000377319.8:c.1342C= (CACNB2)	ENSP00000366536.3:p.His448=
ENST00000377329.10:c.1459C= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His487=
ENST00000377331.8:c.1246C= (CACNB2)	ENSP00000366548.4:p.His416=
ENST00000643096.2:c.1423C= (CACNB2)	ENSP00000494209.2:p.His475=
ENST00000645287.1:c.1465C= (CACNB2)	ENSP00000496203.1:p.His489=
ENST00000647168.2:c.*762C= (CACNB2)	ENSP00000495854.2:n.*762C=
ENST00000650685.1:c.1363C= (CACNB2)	ENSP00000498460.1:p.His455=
ENST00000651330.1:c.*895C= (CACNB2)	ENSP00000498457.1:n.*895C=
ENST00000651468.1:c.1178C= (CACNB2)	ENSP00000498352.1:n.1178C=
ENST00000651928.1:c.*860C= (CACNB2)	ENSP00000499177.1:n.*860C=
ENST00000652391.1:c.1441C= (CACNB2)	ENSP00000498938.1:p.His481=
ENST00000652478.1:c.*721C= (CACNB2)	ENSP00000498812.1:n.*721C=
ENST00000282343.12:c.1537C= (CACNB2)	ENSP00000282343.8:p.His513=
ENST00000324631.11:c.1621C= (CACNB2)	ENSP00000320025.7:p.His541=
ENST00000352115.10:c.1549C= (CACNB2)	ENSP00000344474.6:p.His517=
ENST00000377315.4:c.1477C= (CACNB2)	ENSP00000366532.4:p.His493=
ENST00000377319.7:c.1342C= (CACNB2)	ENSP00000366536.3:p.His448=
ENST00000377328.5:c.871C= (CACNB2)	ENSP00000366545.1:p.His291=
ENST00000377329.8:c.1459C= (CACNB2)	ENSP00000366546.4:p.His487=
ENST00000377331.6:c.1465C= (CACNB2)	ENSP00000366548.2:p.His489=
ENST00000396576.6:c.1456C= (CACNB2)	ENSP00000379821.2:p.His486=
ENST00000612134.4:c.1325C= (CACNB2)	ENSP00000480563.1:n.1325C=
ENST00000612743.1:c.133C= (CACNB2)	ENSP00000478676.1:p.His45=
ENST00000615785.4:c.706C= (CACNB2)	ENSP00000480260.1:p.His236=
ENST00000617363.4:c.1384C= (CACNB2)	ENSP00000479756.1:p.His462=
NM_000724.3:c.1456C= (CACNB2)	NP_000715.2:p.His486=
NM_001167945.1:c.1423C= (CACNB2)	NP_001161417.1:p.His475=
NM_201570.2:c.1477C= (CACNB2)	NP_963864.1:p.His493=
NM_201571.3:c.1537C= (CACNB2)	NP_963865.2:p.His513=
NM_201572.3:c.1465C= (CACNB2)	NP_963866.2:p.His489=
NM_201590.2:c.1459C= (CACNB2)	NP_963884.2:p.His487=
NM_201593.2:c.1507C= (CACNB2)	NP_963887.2:p.His503=
NM_201596.2:c.1621C= (CACNB2)	NP_963890.2:p.His541=
NM_201597.2:c.1549C= (CACNB2)	NP_963891.1:p.His517=
XM_005252588.2:c.1363C= (CACNB2)	XP_005252645.1:p.His455=
XM_005252591.2:c.781C= (CACNB2)	XP_005252648.1:p.His261=
XM_006717502.2:c.1441C= (CACNB2)	XP_006717565.1:p.His481=
XM_011519659.1:c.1387C= (CACNB2)	XP_011517961.1:p.His463=
XM_011519660.1:c.1342C= (CACNB2)	XP_011517962.1:p.His448=
NM_001330060.1:c.1342C= (CACNB2)	NP_001316989.1:p.His448=
XM_005252588.4:c.1363C= (CACNB2)	XP_005252645.1:p.His455=
XM_005252591.3:c.781C= (CACNB2)	XP_005252648.1:p.His261=
XM_006717502.3:c.1441C= (CACNB2)	XP_006717565.1:p.His481=
XM_011519659.2:c.1387C= (CACNB2)	XP_011517961.1:p.His463=
XM_017016625.1:c.781C= (CACNB2)	XP_016872114.1:p.His261=
XR_001747060.1:n.2423+2707G= (NSUN6)
XR_001747198.1:n.1746C= (CACNB2)
NM_000724.4:c.1456C= (CACNB2)	NP_000715.2:p.His486=
NM_001167945.2:c.1423C= (CACNB2)	NP_001161417.1:p.His475=
NM_001330060.2:c.1342C= (CACNB2)	NP_001316989.1:p.His448=
NM_201570.3:c.1477C= (CACNB2)	NP_963864.1:p.His493=
NM_201571.4:c.1537C= (CACNB2)	NP_963865.2:p.His513=
NM_201572.4:c.1465C= (CACNB2)	NP_963866.2:p.His489=
NM_201590.3:c.1459C= (CACNB2) MANE Plus Clinical	NP_963884.2:p.His487=
NM_201593.3:c.1507C= (CACNB2)	NP_963887.2:p.His503=
NM_201596.3:c.1621C= (CACNB2) MANE Select	NP_963890.2:p.His541=
NM_201597.3:c.1549C= (CACNB2)	NP_963891.1:p.His517=