Canonical Allele Identifier: CA376072146

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828443A>C (hg19) ; chr10:g.18539514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539514A>C , CM000672.2:g.18539514A>C	GRCh38
NC_000010.10:g.18828443A>C , CM000672.1:g.18828443A>C	GRCh37
NC_000010.9:g.18868449A>C	NCBI36
NG_016195.1:g.403838A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1629A>C (CACNB2)	ENSP00000366532.4:p.Arg543Ser
ENST00000377319.9:c.1494A>C (CACNB2)	ENSP00000366536.3:p.Arg498Ser
ENST00000645287.2:c.1617A>C (CACNB2)	ENSP00000496203.1:p.Arg539Ser
ENST00000282343.13:c.1689A>C (CACNB2)	ENSP00000282343.8:p.Arg563Ser
ENST00000324631.13:c.1773A>C (CACNB2) MANE Select	ENSP00000320025.8:p.Arg591Ser
ENST00000377315.5:c.1629A>C (CACNB2)	ENSP00000366532.4:p.Arg543Ser
ENST00000377319.8:c.1494A>C (CACNB2)	ENSP00000366536.3:p.Arg498Ser
ENST00000377329.10:c.1611A>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg537Ser
ENST00000377331.8:c.1398A>C (CACNB2)	ENSP00000366548.4:p.Arg466Ser
ENST00000643096.2:c.1575A>C (CACNB2)	ENSP00000494209.2:p.Arg525Ser
ENST00000645287.1:c.1617A>C (CACNB2)	ENSP00000496203.1:p.Arg539Ser
ENST00000647168.2:c.*914A>C (CACNB2)	ENSP00000495854.2:n.*914A>C
ENST00000650685.1:c.1515A>C (CACNB2)	ENSP00000498460.1:p.Arg505Ser
ENST00000651330.1:c.*1047A>C (CACNB2)	ENSP00000498457.1:n.*1047A>C
ENST00000651468.1:c.1330A>C (CACNB2)	ENSP00000498352.1:n.1330A>C
ENST00000651928.1:c.*1012A>C (CACNB2)	ENSP00000499177.1:n.*1012A>C
ENST00000652391.1:c.1593A>C (CACNB2)	ENSP00000498938.1:p.Arg531Ser
ENST00000652478.1:c.*873A>C (CACNB2)	ENSP00000498812.1:n.*873A>C
ENST00000282343.12:c.1689A>C (CACNB2)	ENSP00000282343.8:p.Arg563Ser
ENST00000324631.11:c.1773A>C (CACNB2)	ENSP00000320025.7:p.Arg591Ser
ENST00000352115.10:c.1701A>C (CACNB2)	ENSP00000344474.6:p.Arg567Ser
ENST00000377315.4:c.1629A>C (CACNB2)	ENSP00000366532.4:p.Arg543Ser
ENST00000377319.7:c.1494A>C (CACNB2)	ENSP00000366536.3:p.Arg498Ser
ENST00000377328.5:c.1023A>C (CACNB2)	ENSP00000366545.1:p.Arg341Ser
ENST00000377329.8:c.1611A>C (CACNB2)	ENSP00000366546.4:p.Arg537Ser
ENST00000377331.6:c.1617A>C (CACNB2)	ENSP00000366548.2:p.Arg539Ser
ENST00000396576.6:c.1608A>C (CACNB2)	ENSP00000379821.2:p.Arg536Ser
ENST00000612134.4:c.1477A>C (CACNB2)	ENSP00000480563.1:n.1477A>C
ENST00000612743.1:c.285A>C (CACNB2)	ENSP00000478676.1:p.Arg95Ser
ENST00000615785.4:c.858A>C (CACNB2)	ENSP00000480260.1:p.Arg286Ser
ENST00000617363.4:c.1536A>C (CACNB2)	ENSP00000479756.1:p.Arg512Ser
NM_000724.3:c.1608A>C (CACNB2)	NP_000715.2:p.Arg536Ser
NM_001167945.1:c.1575A>C (CACNB2)	NP_001161417.1:p.Arg525Ser
NM_201570.2:c.1629A>C (CACNB2)	NP_963864.1:p.Arg543Ser
NM_201571.3:c.1689A>C (CACNB2)	NP_963865.2:p.Arg563Ser
NM_201572.3:c.1617A>C (CACNB2)	NP_963866.2:p.Arg539Ser
NM_201590.2:c.1611A>C (CACNB2)	NP_963884.2:p.Arg537Ser
NM_201593.2:c.1659A>C (CACNB2)	NP_963887.2:p.Arg553Ser
NM_201596.2:c.1773A>C (CACNB2)	NP_963890.2:p.Arg591Ser
NM_201597.2:c.1701A>C (CACNB2)	NP_963891.1:p.Arg567Ser
XM_005252588.2:c.1515A>C (CACNB2)	XP_005252645.1:p.Arg505Ser
XM_005252591.2:c.933A>C (CACNB2)	XP_005252648.1:p.Arg311Ser
XM_006717502.2:c.1593A>C (CACNB2)	XP_006717565.1:p.Arg531Ser
XM_011519659.1:c.1539A>C (CACNB2)	XP_011517961.1:p.Arg513Ser
XM_011519660.1:c.1494A>C (CACNB2)	XP_011517962.1:p.Arg498Ser
NM_001330060.1:c.1494A>C (CACNB2)	NP_001316989.1:p.Arg498Ser
XM_005252588.4:c.1515A>C (CACNB2)	XP_005252645.1:p.Arg505Ser
XM_005252591.3:c.933A>C (CACNB2)	XP_005252648.1:p.Arg311Ser
XM_006717502.3:c.1593A>C (CACNB2)	XP_006717565.1:p.Arg531Ser
XM_011519659.2:c.1539A>C (CACNB2)	XP_011517961.1:p.Arg513Ser
XM_017016625.1:c.933A>C (CACNB2)	XP_016872114.1:p.Arg311Ser
XR_001747060.1:n.2423+2555T>G (NSUN6)
XR_001747198.1:n.1898A>C (CACNB2)
NM_000724.4:c.1608A>C (CACNB2)	NP_000715.2:p.Arg536Ser
NM_001167945.2:c.1575A>C (CACNB2)	NP_001161417.1:p.Arg525Ser
NM_001330060.2:c.1494A>C (CACNB2)	NP_001316989.1:p.Arg498Ser
NM_201570.3:c.1629A>C (CACNB2)	NP_963864.1:p.Arg543Ser
NM_201571.4:c.1689A>C (CACNB2)	NP_963865.2:p.Arg563Ser
NM_201572.4:c.1617A>C (CACNB2)	NP_963866.2:p.Arg539Ser
NM_201590.3:c.1611A>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg537Ser
NM_201593.3:c.1659A>C (CACNB2)	NP_963887.2:p.Arg553Ser
NM_201596.3:c.1773A>C (CACNB2) MANE Select	NP_963890.2:p.Arg591Ser
NM_201597.3:c.1701A>C (CACNB2)	NP_963891.1:p.Arg567Ser