Canonical Allele Identifier: CA5430130

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 418104
• ClinVar RCV Id: RCV000483582 ; RCV002395141 ; RCV002481497
• dbSNP Id: rs766377211
• ExAC: 10:18828358 G / C
• gnomAD v2: 10-18828358-G-C
• gnomAD v3: 10-18539429-G-C
• gnomAD v4: 10-18539429-G-C
• MyVariant Identifiers: chr10:g.18828358G>C (hg19) ; chr10:g.18539429G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539429G>C , CM000672.2:g.18539429G>C	GRCh38
NC_000010.10:g.18828358G>C , CM000672.1:g.18828358G>C	GRCh37
NC_000010.9:g.18868364G>C	NCBI36
NG_016195.1:g.403753G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1544G>C (CACNB2)	ENSP00000366532.4:p.Arg515Pro
ENST00000377319.9:c.1409G>C (CACNB2)	ENSP00000366536.3:p.Arg470Pro
ENST00000645287.2:c.1532G>C (CACNB2)	ENSP00000496203.1:p.Arg511Pro
ENST00000282343.13:c.1604G>C (CACNB2)	ENSP00000282343.8:p.Arg535Pro
ENST00000324631.13:c.1688G>C (CACNB2) MANE Select	ENSP00000320025.8:p.Arg563Pro
ENST00000377315.5:c.1544G>C (CACNB2)	ENSP00000366532.4:p.Arg515Pro
ENST00000377319.8:c.1409G>C (CACNB2)	ENSP00000366536.3:p.Arg470Pro
ENST00000377329.10:c.1526G>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg509Pro
ENST00000377331.8:c.1313G>C (CACNB2)	ENSP00000366548.4:p.Arg438Pro
ENST00000643096.2:c.1490G>C (CACNB2)	ENSP00000494209.2:p.Arg497Pro
ENST00000645287.1:c.1532G>C (CACNB2)	ENSP00000496203.1:p.Arg511Pro
ENST00000647168.2:c.*829G>C (CACNB2)	ENSP00000495854.2:n.*829G>C
ENST00000650685.1:c.1430G>C (CACNB2)	ENSP00000498460.1:p.Arg477Pro
ENST00000651330.1:c.*962G>C (CACNB2)	ENSP00000498457.1:n.*962G>C
ENST00000651468.1:c.1245G>C (CACNB2)	ENSP00000498352.1:n.1245G>C
ENST00000651928.1:c.*927G>C (CACNB2)	ENSP00000499177.1:n.*927G>C
ENST00000652391.1:c.1508G>C (CACNB2)	ENSP00000498938.1:p.Arg503Pro
ENST00000652478.1:c.*788G>C (CACNB2)	ENSP00000498812.1:n.*788G>C
ENST00000282343.12:c.1604G>C (CACNB2)	ENSP00000282343.8:p.Arg535Pro
ENST00000324631.11:c.1688G>C (CACNB2)	ENSP00000320025.7:p.Arg563Pro
ENST00000352115.10:c.1616G>C (CACNB2)	ENSP00000344474.6:p.Arg539Pro
ENST00000377315.4:c.1544G>C (CACNB2)	ENSP00000366532.4:p.Arg515Pro
ENST00000377319.7:c.1409G>C (CACNB2)	ENSP00000366536.3:p.Arg470Pro
ENST00000377328.5:c.938G>C (CACNB2)	ENSP00000366545.1:p.Arg313Pro
ENST00000377329.8:c.1526G>C (CACNB2)	ENSP00000366546.4:p.Arg509Pro
ENST00000377331.6:c.1532G>C (CACNB2)	ENSP00000366548.2:p.Arg511Pro
ENST00000396576.6:c.1523G>C (CACNB2)	ENSP00000379821.2:p.Arg508Pro
ENST00000612134.4:c.1392G>C (CACNB2)	ENSP00000480563.1:n.1392G>C
ENST00000612743.1:c.200G>C (CACNB2)	ENSP00000478676.1:p.Arg67Pro
ENST00000615785.4:c.773G>C (CACNB2)	ENSP00000480260.1:p.Arg258Pro
ENST00000617363.4:c.1451G>C (CACNB2)	ENSP00000479756.1:p.Arg484Pro
NM_000724.3:c.1523G>C (CACNB2)	NP_000715.2:p.Arg508Pro
NM_001167945.1:c.1490G>C (CACNB2)	NP_001161417.1:p.Arg497Pro
NM_201570.2:c.1544G>C (CACNB2)	NP_963864.1:p.Arg515Pro
NM_201571.3:c.1604G>C (CACNB2)	NP_963865.2:p.Arg535Pro
NM_201572.3:c.1532G>C (CACNB2)	NP_963866.2:p.Arg511Pro
NM_201590.2:c.1526G>C (CACNB2)	NP_963884.2:p.Arg509Pro
NM_201593.2:c.1574G>C (CACNB2)	NP_963887.2:p.Arg525Pro
NM_201596.2:c.1688G>C (CACNB2)	NP_963890.2:p.Arg563Pro
NM_201597.2:c.1616G>C (CACNB2)	NP_963891.1:p.Arg539Pro
XM_005252588.2:c.1430G>C (CACNB2)	XP_005252645.1:p.Arg477Pro
XM_005252591.2:c.848G>C (CACNB2)	XP_005252648.1:p.Arg283Pro
XM_006717502.2:c.1508G>C (CACNB2)	XP_006717565.1:p.Arg503Pro
XM_011519659.1:c.1454G>C (CACNB2)	XP_011517961.1:p.Arg485Pro
XM_011519660.1:c.1409G>C (CACNB2)	XP_011517962.1:p.Arg470Pro
NM_001330060.1:c.1409G>C (CACNB2)	NP_001316989.1:p.Arg470Pro
XM_005252588.4:c.1430G>C (CACNB2)	XP_005252645.1:p.Arg477Pro
XM_005252591.3:c.848G>C (CACNB2)	XP_005252648.1:p.Arg283Pro
XM_006717502.3:c.1508G>C (CACNB2)	XP_006717565.1:p.Arg503Pro
XM_011519659.2:c.1454G>C (CACNB2)	XP_011517961.1:p.Arg485Pro
XM_017016625.1:c.848G>C (CACNB2)	XP_016872114.1:p.Arg283Pro
XR_001747060.1:n.2423+2640C>G (NSUN6)
XR_001747198.1:n.1813G>C (CACNB2)
NM_000724.4:c.1523G>C (CACNB2)	NP_000715.2:p.Arg508Pro
NM_001167945.2:c.1490G>C (CACNB2)	NP_001161417.1:p.Arg497Pro
NM_001330060.2:c.1409G>C (CACNB2)	NP_001316989.1:p.Arg470Pro
NM_201570.3:c.1544G>C (CACNB2)	NP_963864.1:p.Arg515Pro
NM_201571.4:c.1604G>C (CACNB2)	NP_963865.2:p.Arg535Pro
NM_201572.4:c.1532G>C (CACNB2)	NP_963866.2:p.Arg511Pro
NM_201590.3:c.1526G>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg509Pro
NM_201593.3:c.1574G>C (CACNB2)	NP_963887.2:p.Arg525Pro
NM_201596.3:c.1688G>C (CACNB2) MANE Select	NP_963890.2:p.Arg563Pro
NM_201597.3:c.1616G>C (CACNB2)	NP_963891.1:p.Arg539Pro