Canonical Allele Identifier: CA1894173306

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539406T= , CM000672.2:g.18539406T=	GRCh38
NC_000010.10:g.18828335T= , CM000672.1:g.18828335T=	GRCh37
NC_000010.9:g.18868341T=	NCBI36
NG_016195.1:g.403730T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1521T= (CACNB2)	ENSP00000366532.4:p.Phe507=
ENST00000377319.9:c.1386T= (CACNB2)	ENSP00000366536.3:p.Phe462=
ENST00000645287.2:c.1509T= (CACNB2)	ENSP00000496203.1:p.Phe503=
ENST00000282343.13:c.1581T= (CACNB2)	ENSP00000282343.8:p.Phe527=
ENST00000324631.13:c.1665T= (CACNB2) MANE Select	ENSP00000320025.8:p.Phe555=
ENST00000377315.5:c.1521T= (CACNB2)	ENSP00000366532.4:p.Phe507=
ENST00000377319.8:c.1386T= (CACNB2)	ENSP00000366536.3:p.Phe462=
ENST00000377329.10:c.1503T= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Phe501=
ENST00000377331.8:c.1290T= (CACNB2)	ENSP00000366548.4:p.Phe430=
ENST00000643096.2:c.1467T= (CACNB2)	ENSP00000494209.2:p.Phe489=
ENST00000645287.1:c.1509T= (CACNB2)	ENSP00000496203.1:p.Phe503=
ENST00000647168.2:c.*806T= (CACNB2)	ENSP00000495854.2:n.*806T=
ENST00000650685.1:c.1407T= (CACNB2)	ENSP00000498460.1:p.Phe469=
ENST00000651330.1:c.*939T= (CACNB2)	ENSP00000498457.1:n.*939T=
ENST00000651468.1:c.1222T= (CACNB2)	ENSP00000498352.1:n.1222T=
ENST00000651928.1:c.*904T= (CACNB2)	ENSP00000499177.1:n.*904T=
ENST00000652391.1:c.1485T= (CACNB2)	ENSP00000498938.1:p.Phe495=
ENST00000652478.1:c.*765T= (CACNB2)	ENSP00000498812.1:n.*765T=
ENST00000282343.12:c.1581T= (CACNB2)	ENSP00000282343.8:p.Phe527=
ENST00000324631.11:c.1665T= (CACNB2)	ENSP00000320025.7:p.Phe555=
ENST00000352115.10:c.1593T= (CACNB2)	ENSP00000344474.6:p.Phe531=
ENST00000377315.4:c.1521T= (CACNB2)	ENSP00000366532.4:p.Phe507=
ENST00000377319.7:c.1386T= (CACNB2)	ENSP00000366536.3:p.Phe462=
ENST00000377328.5:c.915T= (CACNB2)	ENSP00000366545.1:p.Phe305=
ENST00000377329.8:c.1503T= (CACNB2)	ENSP00000366546.4:p.Phe501=
ENST00000377331.6:c.1509T= (CACNB2)	ENSP00000366548.2:p.Phe503=
ENST00000396576.6:c.1500T= (CACNB2)	ENSP00000379821.2:p.Phe500=
ENST00000612134.4:c.1369T= (CACNB2)	ENSP00000480563.1:n.1369T=
ENST00000612743.1:c.177T= (CACNB2)	ENSP00000478676.1:p.Phe59=
ENST00000615785.4:c.750T= (CACNB2)	ENSP00000480260.1:p.Phe250=
ENST00000617363.4:c.1428T= (CACNB2)	ENSP00000479756.1:p.Phe476=
NM_000724.3:c.1500T= (CACNB2)	NP_000715.2:p.Phe500=
NM_001167945.1:c.1467T= (CACNB2)	NP_001161417.1:p.Phe489=
NM_201570.2:c.1521T= (CACNB2)	NP_963864.1:p.Phe507=
NM_201571.3:c.1581T= (CACNB2)	NP_963865.2:p.Phe527=
NM_201572.3:c.1509T= (CACNB2)	NP_963866.2:p.Phe503=
NM_201590.2:c.1503T= (CACNB2)	NP_963884.2:p.Phe501=
NM_201593.2:c.1551T= (CACNB2)	NP_963887.2:p.Phe517=
NM_201596.2:c.1665T= (CACNB2)	NP_963890.2:p.Phe555=
NM_201597.2:c.1593T= (CACNB2)	NP_963891.1:p.Phe531=
XM_005252588.2:c.1407T= (CACNB2)	XP_005252645.1:p.Phe469=
XM_005252591.2:c.825T= (CACNB2)	XP_005252648.1:p.Phe275=
XM_006717502.2:c.1485T= (CACNB2)	XP_006717565.1:p.Phe495=
XM_011519659.1:c.1431T= (CACNB2)	XP_011517961.1:p.Phe477=
XM_011519660.1:c.1386T= (CACNB2)	XP_011517962.1:p.Phe462=
NM_001330060.1:c.1386T= (CACNB2)	NP_001316989.1:p.Phe462=
XM_005252588.4:c.1407T= (CACNB2)	XP_005252645.1:p.Phe469=
XM_005252591.3:c.825T= (CACNB2)	XP_005252648.1:p.Phe275=
XM_006717502.3:c.1485T= (CACNB2)	XP_006717565.1:p.Phe495=
XM_011519659.2:c.1431T= (CACNB2)	XP_011517961.1:p.Phe477=
XM_017016625.1:c.825T= (CACNB2)	XP_016872114.1:p.Phe275=
XR_001747060.1:n.2423+2663A= (NSUN6)
XR_001747198.1:n.1790T= (CACNB2)
NM_000724.4:c.1500T= (CACNB2)	NP_000715.2:p.Phe500=
NM_001167945.2:c.1467T= (CACNB2)	NP_001161417.1:p.Phe489=
NM_001330060.2:c.1386T= (CACNB2)	NP_001316989.1:p.Phe462=
NM_201570.3:c.1521T= (CACNB2)	NP_963864.1:p.Phe507=
NM_201571.4:c.1581T= (CACNB2)	NP_963865.2:p.Phe527=
NM_201572.4:c.1509T= (CACNB2)	NP_963866.2:p.Phe503=
NM_201590.3:c.1503T= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Phe501=
NM_201593.3:c.1551T= (CACNB2)	NP_963887.2:p.Phe517=
NM_201596.3:c.1665T= (CACNB2) MANE Select	NP_963890.2:p.Phe555=
NM_201597.3:c.1593T= (CACNB2)	NP_963891.1:p.Phe531=