Canonical Allele Identifier: CA1894174158

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539635G= , CM000672.2:g.18539635G=	GRCh38
NC_000010.10:g.18828564G= , CM000672.1:g.18828564G=	GRCh37
NC_000010.9:g.18868570G=	NCBI36
NG_016195.1:g.403959G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1750G= (CACNB2)	ENSP00000366532.4:p.Asp584=
ENST00000377319.9:c.1615G= (CACNB2)	ENSP00000366536.3:p.Asp539=
ENST00000645287.2:c.1738G= (CACNB2)	ENSP00000496203.1:p.Asp580=
ENST00000282343.13:c.1810G= (CACNB2)	ENSP00000282343.8:p.Asp604=
ENST00000324631.13:c.1894G= (CACNB2) MANE Select	ENSP00000320025.8:p.Asp632=
ENST00000377315.5:c.1750G= (CACNB2)	ENSP00000366532.4:p.Asp584=
ENST00000377319.8:c.1615G= (CACNB2)	ENSP00000366536.3:p.Asp539=
ENST00000377329.10:c.1732G= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp578=
ENST00000377331.8:c.1519G= (CACNB2)	ENSP00000366548.4:p.Asp507=
ENST00000643096.2:c.1696G= (CACNB2)	ENSP00000494209.2:p.Asp566=
ENST00000645287.1:c.1738G= (CACNB2)	ENSP00000496203.1:p.Asp580=
ENST00000647168.2:c.*1035G= (CACNB2)	ENSP00000495854.2:n.*1035G=
ENST00000650685.1:c.1636G= (CACNB2)	ENSP00000498460.1:p.Asp546=
ENST00000651330.1:c.*1168G= (CACNB2)	ENSP00000498457.1:n.*1168G=
ENST00000651468.1:c.1451G= (CACNB2)	ENSP00000498352.1:n.1451G=
ENST00000651928.1:c.*1133G= (CACNB2)	ENSP00000499177.1:n.*1133G=
ENST00000652391.1:c.1714G= (CACNB2)	ENSP00000498938.1:p.Asp572=
ENST00000652478.1:c.*994G= (CACNB2)	ENSP00000498812.1:n.*994G=
ENST00000282343.12:c.1810G= (CACNB2)	ENSP00000282343.8:p.Asp604=
ENST00000324631.11:c.1894G= (CACNB2)	ENSP00000320025.7:p.Asp632=
ENST00000352115.10:c.1822G= (CACNB2)	ENSP00000344474.6:p.Asp608=
ENST00000377315.4:c.1750G= (CACNB2)	ENSP00000366532.4:p.Asp584=
ENST00000377319.7:c.1615G= (CACNB2)	ENSP00000366536.3:p.Asp539=
ENST00000377328.5:c.1144G= (CACNB2)	ENSP00000366545.1:p.Asp382=
ENST00000377329.8:c.1732G= (CACNB2)	ENSP00000366546.4:p.Asp578=
ENST00000377331.6:c.1738G= (CACNB2)	ENSP00000366548.2:p.Asp580=
ENST00000396576.6:c.1729G= (CACNB2)	ENSP00000379821.2:p.Asp577=
ENST00000612134.4:c.1598G= (CACNB2)	ENSP00000480563.1:n.1598G=
ENST00000612743.1:c.406G= (CACNB2)	ENSP00000478676.1:p.Asp136=
ENST00000615785.4:c.979G= (CACNB2)	ENSP00000480260.1:p.Asp327=
ENST00000617363.4:c.1657G= (CACNB2)	ENSP00000479756.1:p.Asp553=
NM_000724.3:c.1729G= (CACNB2)	NP_000715.2:p.Asp577=
NM_001167945.1:c.1696G= (CACNB2)	NP_001161417.1:p.Asp566=
NM_201570.2:c.1750G= (CACNB2)	NP_963864.1:p.Asp584=
NM_201571.3:c.1810G= (CACNB2)	NP_963865.2:p.Asp604=
NM_201572.3:c.1738G= (CACNB2)	NP_963866.2:p.Asp580=
NM_201590.2:c.1732G= (CACNB2)	NP_963884.2:p.Asp578=
NM_201593.2:c.1780G= (CACNB2)	NP_963887.2:p.Asp594=
NM_201596.2:c.1894G= (CACNB2)	NP_963890.2:p.Asp632=
NM_201597.2:c.1822G= (CACNB2)	NP_963891.1:p.Asp608=
XM_005252588.2:c.1636G= (CACNB2)	XP_005252645.1:p.Asp546=
XM_005252591.2:c.1054G= (CACNB2)	XP_005252648.1:p.Asp352=
XM_006717502.2:c.1714G= (CACNB2)	XP_006717565.1:p.Asp572=
XM_011519659.1:c.1660G= (CACNB2)	XP_011517961.1:p.Asp554=
XM_011519660.1:c.1615G= (CACNB2)	XP_011517962.1:p.Asp539=
NM_001330060.1:c.1615G= (CACNB2)	NP_001316989.1:p.Asp539=
XM_005252588.4:c.1636G= (CACNB2)	XP_005252645.1:p.Asp546=
XM_005252591.3:c.1054G= (CACNB2)	XP_005252648.1:p.Asp352=
XM_006717502.3:c.1714G= (CACNB2)	XP_006717565.1:p.Asp572=
XM_011519659.2:c.1660G= (CACNB2)	XP_011517961.1:p.Asp554=
XM_017016625.1:c.1054G= (CACNB2)	XP_016872114.1:p.Asp352=
XR_001747060.1:n.2423+2434C= (NSUN6)
XR_001747198.1:n.2019G= (CACNB2)
NM_000724.4:c.1729G= (CACNB2)	NP_000715.2:p.Asp577=
NM_001167945.2:c.1696G= (CACNB2)	NP_001161417.1:p.Asp566=
NM_001330060.2:c.1615G= (CACNB2)	NP_001316989.1:p.Asp539=
NM_201570.3:c.1750G= (CACNB2)	NP_963864.1:p.Asp584=
NM_201571.4:c.1810G= (CACNB2)	NP_963865.2:p.Asp604=
NM_201572.4:c.1738G= (CACNB2)	NP_963866.2:p.Asp580=
NM_201590.3:c.1732G= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp578=
NM_201593.3:c.1780G= (CACNB2)	NP_963887.2:p.Asp594=
NM_201596.3:c.1894G= (CACNB2) MANE Select	NP_963890.2:p.Asp632=
NM_201597.3:c.1822G= (CACNB2)	NP_963891.1:p.Asp608=