Canonical Allele Identifier: CA1894173472

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539460T= , CM000672.2:g.18539460T=	GRCh38
NC_000010.10:g.18828389T= , CM000672.1:g.18828389T=	GRCh37
NC_000010.9:g.18868395T=	NCBI36
NG_016195.1:g.403784T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1575T= (CACNB2)	ENSP00000366532.4:p.Asp525=
ENST00000377319.9:c.1440T= (CACNB2)	ENSP00000366536.3:p.Asp480=
ENST00000645287.2:c.1563T= (CACNB2)	ENSP00000496203.1:p.Asp521=
ENST00000282343.13:c.1635T= (CACNB2)	ENSP00000282343.8:p.Asp545=
ENST00000324631.13:c.1719T= (CACNB2) MANE Select	ENSP00000320025.8:p.Asp573=
ENST00000377315.5:c.1575T= (CACNB2)	ENSP00000366532.4:p.Asp525=
ENST00000377319.8:c.1440T= (CACNB2)	ENSP00000366536.3:p.Asp480=
ENST00000377329.10:c.1557T= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp519=
ENST00000377331.8:c.1344T= (CACNB2)	ENSP00000366548.4:p.Asp448=
ENST00000643096.2:c.1521T= (CACNB2)	ENSP00000494209.2:p.Asp507=
ENST00000645287.1:c.1563T= (CACNB2)	ENSP00000496203.1:p.Asp521=
ENST00000647168.2:c.*860T= (CACNB2)	ENSP00000495854.2:n.*860T=
ENST00000650685.1:c.1461T= (CACNB2)	ENSP00000498460.1:p.Asp487=
ENST00000651330.1:c.*993T= (CACNB2)	ENSP00000498457.1:n.*993T=
ENST00000651468.1:c.1276T= (CACNB2)	ENSP00000498352.1:n.1276T=
ENST00000651928.1:c.*958T= (CACNB2)	ENSP00000499177.1:n.*958T=
ENST00000652391.1:c.1539T= (CACNB2)	ENSP00000498938.1:p.Asp513=
ENST00000652478.1:c.*819T= (CACNB2)	ENSP00000498812.1:n.*819T=
ENST00000282343.12:c.1635T= (CACNB2)	ENSP00000282343.8:p.Asp545=
ENST00000324631.11:c.1719T= (CACNB2)	ENSP00000320025.7:p.Asp573=
ENST00000352115.10:c.1647T= (CACNB2)	ENSP00000344474.6:p.Asp549=
ENST00000377315.4:c.1575T= (CACNB2)	ENSP00000366532.4:p.Asp525=
ENST00000377319.7:c.1440T= (CACNB2)	ENSP00000366536.3:p.Asp480=
ENST00000377328.5:c.969T= (CACNB2)	ENSP00000366545.1:p.Asp323=
ENST00000377329.8:c.1557T= (CACNB2)	ENSP00000366546.4:p.Asp519=
ENST00000377331.6:c.1563T= (CACNB2)	ENSP00000366548.2:p.Asp521=
ENST00000396576.6:c.1554T= (CACNB2)	ENSP00000379821.2:p.Asp518=
ENST00000612134.4:c.1423T= (CACNB2)	ENSP00000480563.1:n.1423T=
ENST00000612743.1:c.231T= (CACNB2)	ENSP00000478676.1:p.Asp77=
ENST00000615785.4:c.804T= (CACNB2)	ENSP00000480260.1:p.Asp268=
ENST00000617363.4:c.1482T= (CACNB2)	ENSP00000479756.1:p.Asp494=
NM_000724.3:c.1554T= (CACNB2)	NP_000715.2:p.Asp518=
NM_001167945.1:c.1521T= (CACNB2)	NP_001161417.1:p.Asp507=
NM_201570.2:c.1575T= (CACNB2)	NP_963864.1:p.Asp525=
NM_201571.3:c.1635T= (CACNB2)	NP_963865.2:p.Asp545=
NM_201572.3:c.1563T= (CACNB2)	NP_963866.2:p.Asp521=
NM_201590.2:c.1557T= (CACNB2)	NP_963884.2:p.Asp519=
NM_201593.2:c.1605T= (CACNB2)	NP_963887.2:p.Asp535=
NM_201596.2:c.1719T= (CACNB2)	NP_963890.2:p.Asp573=
NM_201597.2:c.1647T= (CACNB2)	NP_963891.1:p.Asp549=
XM_005252588.2:c.1461T= (CACNB2)	XP_005252645.1:p.Asp487=
XM_005252591.2:c.879T= (CACNB2)	XP_005252648.1:p.Asp293=
XM_006717502.2:c.1539T= (CACNB2)	XP_006717565.1:p.Asp513=
XM_011519659.1:c.1485T= (CACNB2)	XP_011517961.1:p.Asp495=
XM_011519660.1:c.1440T= (CACNB2)	XP_011517962.1:p.Asp480=
NM_001330060.1:c.1440T= (CACNB2)	NP_001316989.1:p.Asp480=
XM_005252588.4:c.1461T= (CACNB2)	XP_005252645.1:p.Asp487=
XM_005252591.3:c.879T= (CACNB2)	XP_005252648.1:p.Asp293=
XM_006717502.3:c.1539T= (CACNB2)	XP_006717565.1:p.Asp513=
XM_011519659.2:c.1485T= (CACNB2)	XP_011517961.1:p.Asp495=
XM_017016625.1:c.879T= (CACNB2)	XP_016872114.1:p.Asp293=
XR_001747060.1:n.2423+2609A= (NSUN6)
XR_001747198.1:n.1844T= (CACNB2)
NM_000724.4:c.1554T= (CACNB2)	NP_000715.2:p.Asp518=
NM_001167945.2:c.1521T= (CACNB2)	NP_001161417.1:p.Asp507=
NM_001330060.2:c.1440T= (CACNB2)	NP_001316989.1:p.Asp480=
NM_201570.3:c.1575T= (CACNB2)	NP_963864.1:p.Asp525=
NM_201571.4:c.1635T= (CACNB2)	NP_963865.2:p.Asp545=
NM_201572.4:c.1563T= (CACNB2)	NP_963866.2:p.Asp521=
NM_201590.3:c.1557T= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp519=
NM_201593.3:c.1605T= (CACNB2)	NP_963887.2:p.Asp535=
NM_201596.3:c.1719T= (CACNB2) MANE Select	NP_963890.2:p.Asp573=
NM_201597.3:c.1647T= (CACNB2)	NP_963891.1:p.Asp549=