Canonical Allele Identifier: CA1894173369

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539438C= , CM000672.2:g.18539438C=	GRCh38
NC_000010.10:g.18828367C= , CM000672.1:g.18828367C=	GRCh37
NC_000010.9:g.18868373C=	NCBI36
NG_016195.1:g.403762C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1553C= (CACNB2)	ENSP00000366532.4:p.Ala518=
ENST00000377319.9:c.1418C= (CACNB2)	ENSP00000366536.3:p.Ala473=
ENST00000645287.2:c.1541C= (CACNB2)	ENSP00000496203.1:p.Ala514=
ENST00000282343.13:c.1613C= (CACNB2)	ENSP00000282343.8:p.Ala538=
ENST00000324631.13:c.1697C= (CACNB2) MANE Select	ENSP00000320025.8:p.Ala566=
ENST00000377315.5:c.1553C= (CACNB2)	ENSP00000366532.4:p.Ala518=
ENST00000377319.8:c.1418C= (CACNB2)	ENSP00000366536.3:p.Ala473=
ENST00000377329.10:c.1535C= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ala512=
ENST00000377331.8:c.1322C= (CACNB2)	ENSP00000366548.4:p.Ala441=
ENST00000643096.2:c.1499C= (CACNB2)	ENSP00000494209.2:p.Ala500=
ENST00000645287.1:c.1541C= (CACNB2)	ENSP00000496203.1:p.Ala514=
ENST00000647168.2:c.*838C= (CACNB2)	ENSP00000495854.2:n.*838C=
ENST00000650685.1:c.1439C= (CACNB2)	ENSP00000498460.1:p.Ala480=
ENST00000651330.1:c.*971C= (CACNB2)	ENSP00000498457.1:n.*971C=
ENST00000651468.1:c.1254C= (CACNB2)	ENSP00000498352.1:n.1254C=
ENST00000651928.1:c.*936C= (CACNB2)	ENSP00000499177.1:n.*936C=
ENST00000652391.1:c.1517C= (CACNB2)	ENSP00000498938.1:p.Ala506=
ENST00000652478.1:c.*797C= (CACNB2)	ENSP00000498812.1:n.*797C=
ENST00000282343.12:c.1613C= (CACNB2)	ENSP00000282343.8:p.Ala538=
ENST00000324631.11:c.1697C= (CACNB2)	ENSP00000320025.7:p.Ala566=
ENST00000352115.10:c.1625C= (CACNB2)	ENSP00000344474.6:p.Ala542=
ENST00000377315.4:c.1553C= (CACNB2)	ENSP00000366532.4:p.Ala518=
ENST00000377319.7:c.1418C= (CACNB2)	ENSP00000366536.3:p.Ala473=
ENST00000377328.5:c.947C= (CACNB2)	ENSP00000366545.1:p.Ala316=
ENST00000377329.8:c.1535C= (CACNB2)	ENSP00000366546.4:p.Ala512=
ENST00000377331.6:c.1541C= (CACNB2)	ENSP00000366548.2:p.Ala514=
ENST00000396576.6:c.1532C= (CACNB2)	ENSP00000379821.2:p.Ala511=
ENST00000612134.4:c.1401C= (CACNB2)	ENSP00000480563.1:n.1401C=
ENST00000612743.1:c.209C= (CACNB2)	ENSP00000478676.1:p.Ala70=
ENST00000615785.4:c.782C= (CACNB2)	ENSP00000480260.1:p.Ala261=
ENST00000617363.4:c.1460C= (CACNB2)	ENSP00000479756.1:p.Ala487=
NM_000724.3:c.1532C= (CACNB2)	NP_000715.2:p.Ala511=
NM_001167945.1:c.1499C= (CACNB2)	NP_001161417.1:p.Ala500=
NM_201570.2:c.1553C= (CACNB2)	NP_963864.1:p.Ala518=
NM_201571.3:c.1613C= (CACNB2)	NP_963865.2:p.Ala538=
NM_201572.3:c.1541C= (CACNB2)	NP_963866.2:p.Ala514=
NM_201590.2:c.1535C= (CACNB2)	NP_963884.2:p.Ala512=
NM_201593.2:c.1583C= (CACNB2)	NP_963887.2:p.Ala528=
NM_201596.2:c.1697C= (CACNB2)	NP_963890.2:p.Ala566=
NM_201597.2:c.1625C= (CACNB2)	NP_963891.1:p.Ala542=
XM_005252588.2:c.1439C= (CACNB2)	XP_005252645.1:p.Ala480=
XM_005252591.2:c.857C= (CACNB2)	XP_005252648.1:p.Ala286=
XM_006717502.2:c.1517C= (CACNB2)	XP_006717565.1:p.Ala506=
XM_011519659.1:c.1463C= (CACNB2)	XP_011517961.1:p.Ala488=
XM_011519660.1:c.1418C= (CACNB2)	XP_011517962.1:p.Ala473=
NM_001330060.1:c.1418C= (CACNB2)	NP_001316989.1:p.Ala473=
XM_005252588.4:c.1439C= (CACNB2)	XP_005252645.1:p.Ala480=
XM_005252591.3:c.857C= (CACNB2)	XP_005252648.1:p.Ala286=
XM_006717502.3:c.1517C= (CACNB2)	XP_006717565.1:p.Ala506=
XM_011519659.2:c.1463C= (CACNB2)	XP_011517961.1:p.Ala488=
XM_017016625.1:c.857C= (CACNB2)	XP_016872114.1:p.Ala286=
XR_001747060.1:n.2423+2631G= (NSUN6)
XR_001747198.1:n.1822C= (CACNB2)
NM_000724.4:c.1532C= (CACNB2)	NP_000715.2:p.Ala511=
NM_001167945.2:c.1499C= (CACNB2)	NP_001161417.1:p.Ala500=
NM_001330060.2:c.1418C= (CACNB2)	NP_001316989.1:p.Ala473=
NM_201570.3:c.1553C= (CACNB2)	NP_963864.1:p.Ala518=
NM_201571.4:c.1613C= (CACNB2)	NP_963865.2:p.Ala538=
NM_201572.4:c.1541C= (CACNB2)	NP_963866.2:p.Ala514=
NM_201590.3:c.1535C= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ala512=
NM_201593.3:c.1583C= (CACNB2)	NP_963887.2:p.Ala528=
NM_201596.3:c.1697C= (CACNB2) MANE Select	NP_963890.2:p.Ala566=
NM_201597.3:c.1625C= (CACNB2)	NP_963891.1:p.Ala542=