Canonical Allele Identifier: CA5430161

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 1775999
• ClinVar RCV Id: RCV002398516
• dbSNP Id: rs747168096
• ExAC: 10:18828427 G / A
• gnomAD v2: 10-18828427-G-A
• gnomAD v3: 10-18539498-G-A
• gnomAD v4: 10-18539498-G-A
• COSMIC: COSM2132312 ; COSM2132313 ; COSM2132314 ; COSM4176364 ; COSM4176365
• MyVariant Identifiers: chr10:g.18828427G>A (hg19) ; chr10:g.18539498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539498G>A , CM000672.2:g.18539498G>A	GRCh38
NC_000010.10:g.18828427G>A , CM000672.1:g.18828427G>A	GRCh37
NC_000010.9:g.18868433G>A	NCBI36
NG_016195.1:g.403822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1613G>A (CACNB2)	ENSP00000366532.4:p.Arg538His
ENST00000377319.9:c.1478G>A (CACNB2)	ENSP00000366536.3:p.Arg493His
ENST00000645287.2:c.1601G>A (CACNB2)	ENSP00000496203.1:p.Arg534His
ENST00000282343.13:c.1673G>A (CACNB2)	ENSP00000282343.8:p.Arg558His
ENST00000324631.13:c.1757G>A (CACNB2) MANE Select	ENSP00000320025.8:p.Arg586His
ENST00000377315.5:c.1613G>A (CACNB2)	ENSP00000366532.4:p.Arg538His
ENST00000377319.8:c.1478G>A (CACNB2)	ENSP00000366536.3:p.Arg493His
ENST00000377329.10:c.1595G>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg532His
ENST00000377331.8:c.1382G>A (CACNB2)	ENSP00000366548.4:p.Arg461His
ENST00000643096.2:c.1559G>A (CACNB2)	ENSP00000494209.2:p.Arg520His
ENST00000645287.1:c.1601G>A (CACNB2)	ENSP00000496203.1:p.Arg534His
ENST00000647168.2:c.*898G>A (CACNB2)	ENSP00000495854.2:n.*898G>A
ENST00000650685.1:c.1499G>A (CACNB2)	ENSP00000498460.1:p.Arg500His
ENST00000651330.1:c.*1031G>A (CACNB2)	ENSP00000498457.1:n.*1031G>A
ENST00000651468.1:c.1314G>A (CACNB2)	ENSP00000498352.1:n.1314G>A
ENST00000651928.1:c.*996G>A (CACNB2)	ENSP00000499177.1:n.*996G>A
ENST00000652391.1:c.1577G>A (CACNB2)	ENSP00000498938.1:p.Arg526His
ENST00000652478.1:c.*857G>A (CACNB2)	ENSP00000498812.1:n.*857G>A
ENST00000282343.12:c.1673G>A (CACNB2)	ENSP00000282343.8:p.Arg558His
ENST00000324631.11:c.1757G>A (CACNB2)	ENSP00000320025.7:p.Arg586His
ENST00000352115.10:c.1685G>A (CACNB2)	ENSP00000344474.6:p.Arg562His
ENST00000377315.4:c.1613G>A (CACNB2)	ENSP00000366532.4:p.Arg538His
ENST00000377319.7:c.1478G>A (CACNB2)	ENSP00000366536.3:p.Arg493His
ENST00000377328.5:c.1007G>A (CACNB2)	ENSP00000366545.1:p.Arg336His
ENST00000377329.8:c.1595G>A (CACNB2)	ENSP00000366546.4:p.Arg532His
ENST00000377331.6:c.1601G>A (CACNB2)	ENSP00000366548.2:p.Arg534His
ENST00000396576.6:c.1592G>A (CACNB2)	ENSP00000379821.2:p.Arg531His
ENST00000612134.4:c.1461G>A (CACNB2)	ENSP00000480563.1:n.1461G>A
ENST00000612743.1:c.269G>A (CACNB2)	ENSP00000478676.1:p.Arg90His
ENST00000615785.4:c.842G>A (CACNB2)	ENSP00000480260.1:p.Arg281His
ENST00000617363.4:c.1520G>A (CACNB2)	ENSP00000479756.1:p.Arg507His
NM_000724.3:c.1592G>A (CACNB2)	NP_000715.2:p.Arg531His
NM_001167945.1:c.1559G>A (CACNB2)	NP_001161417.1:p.Arg520His
NM_201570.2:c.1613G>A (CACNB2)	NP_963864.1:p.Arg538His
NM_201571.3:c.1673G>A (CACNB2)	NP_963865.2:p.Arg558His
NM_201572.3:c.1601G>A (CACNB2)	NP_963866.2:p.Arg534His
NM_201590.2:c.1595G>A (CACNB2)	NP_963884.2:p.Arg532His
NM_201593.2:c.1643G>A (CACNB2)	NP_963887.2:p.Arg548His
NM_201596.2:c.1757G>A (CACNB2)	NP_963890.2:p.Arg586His
NM_201597.2:c.1685G>A (CACNB2)	NP_963891.1:p.Arg562His
XM_005252588.2:c.1499G>A (CACNB2)	XP_005252645.1:p.Arg500His
XM_005252591.2:c.917G>A (CACNB2)	XP_005252648.1:p.Arg306His
XM_006717502.2:c.1577G>A (CACNB2)	XP_006717565.1:p.Arg526His
XM_011519659.1:c.1523G>A (CACNB2)	XP_011517961.1:p.Arg508His
XM_011519660.1:c.1478G>A (CACNB2)	XP_011517962.1:p.Arg493His
NM_001330060.1:c.1478G>A (CACNB2)	NP_001316989.1:p.Arg493His
XM_005252588.4:c.1499G>A (CACNB2)	XP_005252645.1:p.Arg500His
XM_005252591.3:c.917G>A (CACNB2)	XP_005252648.1:p.Arg306His
XM_006717502.3:c.1577G>A (CACNB2)	XP_006717565.1:p.Arg526His
XM_011519659.2:c.1523G>A (CACNB2)	XP_011517961.1:p.Arg508His
XM_017016625.1:c.917G>A (CACNB2)	XP_016872114.1:p.Arg306His
XR_001747060.1:n.2423+2571C>T (NSUN6)
XR_001747198.1:n.1882G>A (CACNB2)
NM_000724.4:c.1592G>A (CACNB2)	NP_000715.2:p.Arg531His
NM_001167945.2:c.1559G>A (CACNB2)	NP_001161417.1:p.Arg520His
NM_001330060.2:c.1478G>A (CACNB2)	NP_001316989.1:p.Arg493His
NM_201570.3:c.1613G>A (CACNB2)	NP_963864.1:p.Arg538His
NM_201571.4:c.1673G>A (CACNB2)	NP_963865.2:p.Arg558His
NM_201572.4:c.1601G>A (CACNB2)	NP_963866.2:p.Arg534His
NM_201590.3:c.1595G>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg532His
NM_201593.3:c.1643G>A (CACNB2)	NP_963887.2:p.Arg548His
NM_201596.3:c.1757G>A (CACNB2) MANE Select	NP_963890.2:p.Arg586His
NM_201597.3:c.1685G>A (CACNB2)	NP_963891.1:p.Arg562His