Canonical Allele Identifier: CA1894173076

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539333G= , CM000672.2:g.18539333G=	GRCh38
NC_000010.10:g.18828262G= , CM000672.1:g.18828262G=	GRCh37
NC_000010.9:g.18868268G=	NCBI36
NG_016195.1:g.403657G=

Transcript Alleles

HGVS	Amino-acid Change
NM_201596.3:c.1592G= (CACNB2) MANE Select	NP_963890.2:p.Arg531=
ENST00000324631.13:c.1592G= (CACNB2) MANE Select	ENSP00000320025.8:p.Arg531=
NM_201590.3:c.1430G= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg477=
ENST00000377329.10:c.1430G= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg477=
NM_000724.3:c.1427G= (CACNB2)	NP_000715.2:p.Arg476=
NM_000724.4:c.1427G= (CACNB2)	NP_000715.2:p.Arg476=
NM_001167945.1:c.1394G= (CACNB2)	NP_001161417.1:p.Arg465=
NM_001167945.2:c.1394G= (CACNB2)	NP_001161417.1:p.Arg465=
NM_001330060.1:c.1313G= (CACNB2)	NP_001316989.1:p.Arg438=
NM_001330060.2:c.1313G= (CACNB2)	NP_001316989.1:p.Arg438=
NM_201570.2:c.1448G= (CACNB2)	NP_963864.1:p.Arg483=
NM_201570.3:c.1448G= (CACNB2)	NP_963864.1:p.Arg483=
NM_201571.3:c.1508G= (CACNB2)	NP_963865.2:p.Arg503=
NM_201571.4:c.1508G= (CACNB2)	NP_963865.2:p.Arg503=
NM_201572.3:c.1436G= (CACNB2)	NP_963866.2:p.Arg479=
NM_201572.4:c.1436G= (CACNB2)	NP_963866.2:p.Arg479=
NM_201590.2:c.1430G= (CACNB2)	NP_963884.2:p.Arg477=
NM_201593.2:c.1478G= (CACNB2)	NP_963887.2:p.Arg493=
NM_201593.3:c.1478G= (CACNB2)	NP_963887.2:p.Arg493=
NM_201596.2:c.1592G= (CACNB2)	NP_963890.2:p.Arg531=
NM_201597.2:c.1520G= (CACNB2)	NP_963891.1:p.Arg507=
NM_201597.3:c.1520G= (CACNB2)	NP_963891.1:p.Arg507=
ENST00000282343.12:c.1508G= (CACNB2)	ENSP00000282343.8:p.Arg503=
ENST00000282343.13:c.1508G= (CACNB2)	ENSP00000282343.8:p.Arg503=
ENST00000324631.11:c.1592G= (CACNB2)	ENSP00000320025.7:p.Arg531=
ENST00000352115.10:c.1520G= (CACNB2)	ENSP00000344474.6:p.Arg507=
ENST00000377315.4:c.1448G= (CACNB2)	ENSP00000366532.4:p.Arg483=
ENST00000377315.5:c.1448G= (CACNB2)	ENSP00000366532.4:p.Arg483=
ENST00000377315.6:c.1448G= (CACNB2)	ENSP00000366532.4:p.Arg483=
ENST00000377319.7:c.1313G= (CACNB2)	ENSP00000366536.3:p.Arg438=
ENST00000377319.8:c.1313G= (CACNB2)	ENSP00000366536.3:p.Arg438=
ENST00000377319.9:c.1313G= (CACNB2)	ENSP00000366536.3:p.Arg438=
ENST00000377328.5:c.842G= (CACNB2)	ENSP00000366545.1:p.Arg281=
ENST00000377329.8:c.1430G= (CACNB2)	ENSP00000366546.4:p.Arg477=
ENST00000377331.6:c.1436G= (CACNB2)	ENSP00000366548.2:p.Arg479=
ENST00000377331.8:c.1217G= (CACNB2)	ENSP00000366548.4:p.Arg406=
ENST00000396576.6:c.1427G= (CACNB2)	ENSP00000379821.2:p.Arg476=
ENST00000612134.4:c.1296G= (CACNB2)	ENSP00000480563.1:n.1296G=
ENST00000612743.1:c.104G= (CACNB2)	ENSP00000478676.1:p.Arg35=
ENST00000615785.4:c.677G= (CACNB2)	ENSP00000480260.1:p.Arg226=
ENST00000617363.4:c.1355G= (CACNB2)	ENSP00000479756.1:p.Arg452=
ENST00000643096.2:c.1394G= (CACNB2)	ENSP00000494209.2:p.Arg465=
ENST00000645287.1:c.1436G= (CACNB2)	ENSP00000496203.1:p.Arg479=
ENST00000645287.2:c.1436G= (CACNB2)	ENSP00000496203.1:p.Arg479=
ENST00000647168.2:c.*733G= (CACNB2)	ENSP00000495854.2:n.*733G=
ENST00000650685.1:c.1334G= (CACNB2)	ENSP00000498460.1:p.Arg445=
ENST00000651330.1:c.*866G= (CACNB2)	ENSP00000498457.1:n.*866G=
ENST00000651468.1:c.1149G= (CACNB2)	ENSP00000498352.1:n.1149G=
ENST00000651928.1:c.*831G= (CACNB2)	ENSP00000499177.1:n.*831G=
ENST00000652391.1:c.1412G= (CACNB2)	ENSP00000498938.1:p.Arg471=
ENST00000652478.1:c.*692G= (CACNB2)	ENSP00000498812.1:n.*692G=
XM_005252588.2:c.1334G= (CACNB2)	XP_005252645.1:p.Arg445=
XM_005252588.4:c.1334G= (CACNB2)	XP_005252645.1:p.Arg445=
XM_005252591.2:c.752G= (CACNB2)	XP_005252648.1:p.Arg251=
XM_005252591.3:c.752G= (CACNB2)	XP_005252648.1:p.Arg251=
XM_006717502.2:c.1412G= (CACNB2)	XP_006717565.1:p.Arg471=
XM_006717502.3:c.1412G= (CACNB2)	XP_006717565.1:p.Arg471=
XM_011519659.1:c.1358G= (CACNB2)	XP_011517961.1:p.Arg453=
XM_011519659.2:c.1358G= (CACNB2)	XP_011517961.1:p.Arg453=
XM_011519660.1:c.1313G= (CACNB2)	XP_011517962.1:p.Arg438=
XM_017016625.1:c.752G= (CACNB2)	XP_016872114.1:p.Arg251=
XR_001747060.1:n.2423+2736C= (NSUN6)
XR_001747198.1:n.1717G= (CACNB2)