Canonical Allele Identifier: CA1894173394

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539442C= , CM000672.2:g.18539442C=	GRCh38
NC_000010.10:g.18828371C= , CM000672.1:g.18828371C=	GRCh37
NC_000010.9:g.18868377C=	NCBI36
NG_016195.1:g.403766C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1557C= (CACNB2)	ENSP00000366532.4:p.Tyr519=
ENST00000377319.9:c.1422C= (CACNB2)	ENSP00000366536.3:p.Tyr474=
ENST00000645287.2:c.1545C= (CACNB2)	ENSP00000496203.1:p.Tyr515=
ENST00000282343.13:c.1617C= (CACNB2)	ENSP00000282343.8:p.Tyr539=
ENST00000324631.13:c.1701C= (CACNB2) MANE Select	ENSP00000320025.8:p.Tyr567=
ENST00000377315.5:c.1557C= (CACNB2)	ENSP00000366532.4:p.Tyr519=
ENST00000377319.8:c.1422C= (CACNB2)	ENSP00000366536.3:p.Tyr474=
ENST00000377329.10:c.1539C= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Tyr513=
ENST00000377331.8:c.1326C= (CACNB2)	ENSP00000366548.4:p.Tyr442=
ENST00000643096.2:c.1503C= (CACNB2)	ENSP00000494209.2:p.Tyr501=
ENST00000645287.1:c.1545C= (CACNB2)	ENSP00000496203.1:p.Tyr515=
ENST00000647168.2:c.*842C= (CACNB2)	ENSP00000495854.2:n.*842C=
ENST00000650685.1:c.1443C= (CACNB2)	ENSP00000498460.1:p.Tyr481=
ENST00000651330.1:c.*975C= (CACNB2)	ENSP00000498457.1:n.*975C=
ENST00000651468.1:c.1258C= (CACNB2)	ENSP00000498352.1:n.1258C=
ENST00000651928.1:c.*940C= (CACNB2)	ENSP00000499177.1:n.*940C=
ENST00000652391.1:c.1521C= (CACNB2)	ENSP00000498938.1:p.Tyr507=
ENST00000652478.1:c.*801C= (CACNB2)	ENSP00000498812.1:n.*801C=
ENST00000282343.12:c.1617C= (CACNB2)	ENSP00000282343.8:p.Tyr539=
ENST00000324631.11:c.1701C= (CACNB2)	ENSP00000320025.7:p.Tyr567=
ENST00000352115.10:c.1629C= (CACNB2)	ENSP00000344474.6:p.Tyr543=
ENST00000377315.4:c.1557C= (CACNB2)	ENSP00000366532.4:p.Tyr519=
ENST00000377319.7:c.1422C= (CACNB2)	ENSP00000366536.3:p.Tyr474=
ENST00000377328.5:c.951C= (CACNB2)	ENSP00000366545.1:p.Tyr317=
ENST00000377329.8:c.1539C= (CACNB2)	ENSP00000366546.4:p.Tyr513=
ENST00000377331.6:c.1545C= (CACNB2)	ENSP00000366548.2:p.Tyr515=
ENST00000396576.6:c.1536C= (CACNB2)	ENSP00000379821.2:p.Tyr512=
ENST00000612134.4:c.1405C= (CACNB2)	ENSP00000480563.1:n.1405C=
ENST00000612743.1:c.213C= (CACNB2)	ENSP00000478676.1:p.Tyr71=
ENST00000615785.4:c.786C= (CACNB2)	ENSP00000480260.1:p.Tyr262=
ENST00000617363.4:c.1464C= (CACNB2)	ENSP00000479756.1:p.Tyr488=
NM_000724.3:c.1536C= (CACNB2)	NP_000715.2:p.Tyr512=
NM_001167945.1:c.1503C= (CACNB2)	NP_001161417.1:p.Tyr501=
NM_201570.2:c.1557C= (CACNB2)	NP_963864.1:p.Tyr519=
NM_201571.3:c.1617C= (CACNB2)	NP_963865.2:p.Tyr539=
NM_201572.3:c.1545C= (CACNB2)	NP_963866.2:p.Tyr515=
NM_201590.2:c.1539C= (CACNB2)	NP_963884.2:p.Tyr513=
NM_201593.2:c.1587C= (CACNB2)	NP_963887.2:p.Tyr529=
NM_201596.2:c.1701C= (CACNB2)	NP_963890.2:p.Tyr567=
NM_201597.2:c.1629C= (CACNB2)	NP_963891.1:p.Tyr543=
XM_005252588.2:c.1443C= (CACNB2)	XP_005252645.1:p.Tyr481=
XM_005252591.2:c.861C= (CACNB2)	XP_005252648.1:p.Tyr287=
XM_006717502.2:c.1521C= (CACNB2)	XP_006717565.1:p.Tyr507=
XM_011519659.1:c.1467C= (CACNB2)	XP_011517961.1:p.Tyr489=
XM_011519660.1:c.1422C= (CACNB2)	XP_011517962.1:p.Tyr474=
NM_001330060.1:c.1422C= (CACNB2)	NP_001316989.1:p.Tyr474=
XM_005252588.4:c.1443C= (CACNB2)	XP_005252645.1:p.Tyr481=
XM_005252591.3:c.861C= (CACNB2)	XP_005252648.1:p.Tyr287=
XM_006717502.3:c.1521C= (CACNB2)	XP_006717565.1:p.Tyr507=
XM_011519659.2:c.1467C= (CACNB2)	XP_011517961.1:p.Tyr489=
XM_017016625.1:c.861C= (CACNB2)	XP_016872114.1:p.Tyr287=
XR_001747060.1:n.2423+2627G= (NSUN6)
XR_001747198.1:n.1826C= (CACNB2)
NM_000724.4:c.1536C= (CACNB2)	NP_000715.2:p.Tyr512=
NM_001167945.2:c.1503C= (CACNB2)	NP_001161417.1:p.Tyr501=
NM_001330060.2:c.1422C= (CACNB2)	NP_001316989.1:p.Tyr474=
NM_201570.3:c.1557C= (CACNB2)	NP_963864.1:p.Tyr519=
NM_201571.4:c.1617C= (CACNB2)	NP_963865.2:p.Tyr539=
NM_201572.4:c.1545C= (CACNB2)	NP_963866.2:p.Tyr515=
NM_201590.3:c.1539C= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Tyr513=
NM_201593.3:c.1587C= (CACNB2)	NP_963887.2:p.Tyr529=
NM_201596.3:c.1701C= (CACNB2) MANE Select	NP_963890.2:p.Tyr567=
NM_201597.3:c.1629C= (CACNB2)	NP_963891.1:p.Tyr543=