Canonical Allele Identifier: CA1894173322

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539421G= , CM000672.2:g.18539421G=	GRCh38
NC_000010.10:g.18828350G= , CM000672.1:g.18828350G=	GRCh37
NC_000010.9:g.18868356G=	NCBI36
NG_016195.1:g.403745G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1536G= (CACNB2)	ENSP00000366532.4:p.Gln512=
ENST00000377319.9:c.1401G= (CACNB2)	ENSP00000366536.3:p.Gln467=
ENST00000645287.2:c.1524G= (CACNB2)	ENSP00000496203.1:p.Gln508=
ENST00000282343.13:c.1596G= (CACNB2)	ENSP00000282343.8:p.Gln532=
ENST00000324631.13:c.1680G= (CACNB2) MANE Select	ENSP00000320025.8:p.Gln560=
ENST00000377315.5:c.1536G= (CACNB2)	ENSP00000366532.4:p.Gln512=
ENST00000377319.8:c.1401G= (CACNB2)	ENSP00000366536.3:p.Gln467=
ENST00000377329.10:c.1518G= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Gln506=
ENST00000377331.8:c.1305G= (CACNB2)	ENSP00000366548.4:p.Gln435=
ENST00000643096.2:c.1482G= (CACNB2)	ENSP00000494209.2:p.Gln494=
ENST00000645287.1:c.1524G= (CACNB2)	ENSP00000496203.1:p.Gln508=
ENST00000647168.2:c.*821G= (CACNB2)	ENSP00000495854.2:n.*821G=
ENST00000650685.1:c.1422G= (CACNB2)	ENSP00000498460.1:p.Gln474=
ENST00000651330.1:c.*954G= (CACNB2)	ENSP00000498457.1:n.*954G=
ENST00000651468.1:c.1237G= (CACNB2)	ENSP00000498352.1:n.1237G=
ENST00000651928.1:c.*919G= (CACNB2)	ENSP00000499177.1:n.*919G=
ENST00000652391.1:c.1500G= (CACNB2)	ENSP00000498938.1:p.Gln500=
ENST00000652478.1:c.*780G= (CACNB2)	ENSP00000498812.1:n.*780G=
ENST00000282343.12:c.1596G= (CACNB2)	ENSP00000282343.8:p.Gln532=
ENST00000324631.11:c.1680G= (CACNB2)	ENSP00000320025.7:p.Gln560=
ENST00000352115.10:c.1608G= (CACNB2)	ENSP00000344474.6:p.Gln536=
ENST00000377315.4:c.1536G= (CACNB2)	ENSP00000366532.4:p.Gln512=
ENST00000377319.7:c.1401G= (CACNB2)	ENSP00000366536.3:p.Gln467=
ENST00000377328.5:c.930G= (CACNB2)	ENSP00000366545.1:p.Gln310=
ENST00000377329.8:c.1518G= (CACNB2)	ENSP00000366546.4:p.Gln506=
ENST00000377331.6:c.1524G= (CACNB2)	ENSP00000366548.2:p.Gln508=
ENST00000396576.6:c.1515G= (CACNB2)	ENSP00000379821.2:p.Gln505=
ENST00000612134.4:c.1384G= (CACNB2)	ENSP00000480563.1:n.1384G=
ENST00000612743.1:c.192G= (CACNB2)	ENSP00000478676.1:p.Gln64=
ENST00000615785.4:c.765G= (CACNB2)	ENSP00000480260.1:p.Gln255=
ENST00000617363.4:c.1443G= (CACNB2)	ENSP00000479756.1:p.Gln481=
NM_000724.3:c.1515G= (CACNB2)	NP_000715.2:p.Gln505=
NM_001167945.1:c.1482G= (CACNB2)	NP_001161417.1:p.Gln494=
NM_201570.2:c.1536G= (CACNB2)	NP_963864.1:p.Gln512=
NM_201571.3:c.1596G= (CACNB2)	NP_963865.2:p.Gln532=
NM_201572.3:c.1524G= (CACNB2)	NP_963866.2:p.Gln508=
NM_201590.2:c.1518G= (CACNB2)	NP_963884.2:p.Gln506=
NM_201593.2:c.1566G= (CACNB2)	NP_963887.2:p.Gln522=
NM_201596.2:c.1680G= (CACNB2)	NP_963890.2:p.Gln560=
NM_201597.2:c.1608G= (CACNB2)	NP_963891.1:p.Gln536=
XM_005252588.2:c.1422G= (CACNB2)	XP_005252645.1:p.Gln474=
XM_005252591.2:c.840G= (CACNB2)	XP_005252648.1:p.Gln280=
XM_006717502.2:c.1500G= (CACNB2)	XP_006717565.1:p.Gln500=
XM_011519659.1:c.1446G= (CACNB2)	XP_011517961.1:p.Gln482=
XM_011519660.1:c.1401G= (CACNB2)	XP_011517962.1:p.Gln467=
NM_001330060.1:c.1401G= (CACNB2)	NP_001316989.1:p.Gln467=
XM_005252588.4:c.1422G= (CACNB2)	XP_005252645.1:p.Gln474=
XM_005252591.3:c.840G= (CACNB2)	XP_005252648.1:p.Gln280=
XM_006717502.3:c.1500G= (CACNB2)	XP_006717565.1:p.Gln500=
XM_011519659.2:c.1446G= (CACNB2)	XP_011517961.1:p.Gln482=
XM_017016625.1:c.840G= (CACNB2)	XP_016872114.1:p.Gln280=
XR_001747060.1:n.2423+2648C= (NSUN6)
XR_001747198.1:n.1805G= (CACNB2)
NM_000724.4:c.1515G= (CACNB2)	NP_000715.2:p.Gln505=
NM_001167945.2:c.1482G= (CACNB2)	NP_001161417.1:p.Gln494=
NM_001330060.2:c.1401G= (CACNB2)	NP_001316989.1:p.Gln467=
NM_201570.3:c.1536G= (CACNB2)	NP_963864.1:p.Gln512=
NM_201571.4:c.1596G= (CACNB2)	NP_963865.2:p.Gln532=
NM_201572.4:c.1524G= (CACNB2)	NP_963866.2:p.Gln508=
NM_201590.3:c.1518G= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Gln506=
NM_201593.3:c.1566G= (CACNB2)	NP_963887.2:p.Gln522=
NM_201596.3:c.1680G= (CACNB2) MANE Select	NP_963890.2:p.Gln560=
NM_201597.3:c.1608G= (CACNB2)	NP_963891.1:p.Gln536=