Canonical Allele Identifier: CA376071641

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 2699433
• ClinVar RCV Id: RCV003510486
• COSMIC: COSM3866954 ; COSM3866955 ; COSM3866956 ; COSM3866957 ; COSM3866958
• MyVariant Identifiers: chr10:g.18828327G>A (hg19) ; chr10:g.18539398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539398G>A , CM000672.2:g.18539398G>A	GRCh38
NC_000010.10:g.18828327G>A , CM000672.1:g.18828327G>A	GRCh37
NC_000010.9:g.18868333G>A	NCBI36
NG_016195.1:g.403722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1513G>A (CACNB2)	ENSP00000366532.4:p.Glu505Lys
ENST00000377319.9:c.1378G>A (CACNB2)	ENSP00000366536.3:p.Glu460Lys
ENST00000645287.2:c.1501G>A (CACNB2)	ENSP00000496203.1:p.Glu501Lys
ENST00000282343.13:c.1573G>A (CACNB2)	ENSP00000282343.8:p.Glu525Lys
ENST00000324631.13:c.1657G>A (CACNB2) MANE Select	ENSP00000320025.8:p.Glu553Lys
ENST00000377315.5:c.1513G>A (CACNB2)	ENSP00000366532.4:p.Glu505Lys
ENST00000377319.8:c.1378G>A (CACNB2)	ENSP00000366536.3:p.Glu460Lys
ENST00000377329.10:c.1495G>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu499Lys
ENST00000377331.8:c.1282G>A (CACNB2)	ENSP00000366548.4:p.Glu428Lys
ENST00000643096.2:c.1459G>A (CACNB2)	ENSP00000494209.2:p.Glu487Lys
ENST00000645287.1:c.1501G>A (CACNB2)	ENSP00000496203.1:p.Glu501Lys
ENST00000647168.2:c.*798G>A (CACNB2)	ENSP00000495854.2:n.*798G>A
ENST00000650685.1:c.1399G>A (CACNB2)	ENSP00000498460.1:p.Glu467Lys
ENST00000651330.1:c.*931G>A (CACNB2)	ENSP00000498457.1:n.*931G>A
ENST00000651468.1:c.1214G>A (CACNB2)	ENSP00000498352.1:n.1214G>A
ENST00000651928.1:c.*896G>A (CACNB2)	ENSP00000499177.1:n.*896G>A
ENST00000652391.1:c.1477G>A (CACNB2)	ENSP00000498938.1:p.Glu493Lys
ENST00000652478.1:c.*757G>A (CACNB2)	ENSP00000498812.1:n.*757G>A
ENST00000282343.12:c.1573G>A (CACNB2)	ENSP00000282343.8:p.Glu525Lys
ENST00000324631.11:c.1657G>A (CACNB2)	ENSP00000320025.7:p.Glu553Lys
ENST00000352115.10:c.1585G>A (CACNB2)	ENSP00000344474.6:p.Glu529Lys
ENST00000377315.4:c.1513G>A (CACNB2)	ENSP00000366532.4:p.Glu505Lys
ENST00000377319.7:c.1378G>A (CACNB2)	ENSP00000366536.3:p.Glu460Lys
ENST00000377328.5:c.907G>A (CACNB2)	ENSP00000366545.1:p.Glu303Lys
ENST00000377329.8:c.1495G>A (CACNB2)	ENSP00000366546.4:p.Glu499Lys
ENST00000377331.6:c.1501G>A (CACNB2)	ENSP00000366548.2:p.Glu501Lys
ENST00000396576.6:c.1492G>A (CACNB2)	ENSP00000379821.2:p.Glu498Lys
ENST00000612134.4:c.1361G>A (CACNB2)	ENSP00000480563.1:n.1361G>A
ENST00000612743.1:c.169G>A (CACNB2)	ENSP00000478676.1:p.Glu57Lys
ENST00000615785.4:c.742G>A (CACNB2)	ENSP00000480260.1:p.Glu248Lys
ENST00000617363.4:c.1420G>A (CACNB2)	ENSP00000479756.1:p.Glu474Lys
NM_000724.3:c.1492G>A (CACNB2)	NP_000715.2:p.Glu498Lys
NM_001167945.1:c.1459G>A (CACNB2)	NP_001161417.1:p.Glu487Lys
NM_201570.2:c.1513G>A (CACNB2)	NP_963864.1:p.Glu505Lys
NM_201571.3:c.1573G>A (CACNB2)	NP_963865.2:p.Glu525Lys
NM_201572.3:c.1501G>A (CACNB2)	NP_963866.2:p.Glu501Lys
NM_201590.2:c.1495G>A (CACNB2)	NP_963884.2:p.Glu499Lys
NM_201593.2:c.1543G>A (CACNB2)	NP_963887.2:p.Glu515Lys
NM_201596.2:c.1657G>A (CACNB2)	NP_963890.2:p.Glu553Lys
NM_201597.2:c.1585G>A (CACNB2)	NP_963891.1:p.Glu529Lys
XM_005252588.2:c.1399G>A (CACNB2)	XP_005252645.1:p.Glu467Lys
XM_005252591.2:c.817G>A (CACNB2)	XP_005252648.1:p.Glu273Lys
XM_006717502.2:c.1477G>A (CACNB2)	XP_006717565.1:p.Glu493Lys
XM_011519659.1:c.1423G>A (CACNB2)	XP_011517961.1:p.Glu475Lys
XM_011519660.1:c.1378G>A (CACNB2)	XP_011517962.1:p.Glu460Lys
NM_001330060.1:c.1378G>A (CACNB2)	NP_001316989.1:p.Glu460Lys
XM_005252588.4:c.1399G>A (CACNB2)	XP_005252645.1:p.Glu467Lys
XM_005252591.3:c.817G>A (CACNB2)	XP_005252648.1:p.Glu273Lys
XM_006717502.3:c.1477G>A (CACNB2)	XP_006717565.1:p.Glu493Lys
XM_011519659.2:c.1423G>A (CACNB2)	XP_011517961.1:p.Glu475Lys
XM_017016625.1:c.817G>A (CACNB2)	XP_016872114.1:p.Glu273Lys
XR_001747060.1:n.2423+2671C>T (NSUN6)
XR_001747198.1:n.1782G>A (CACNB2)
NM_000724.4:c.1492G>A (CACNB2)	NP_000715.2:p.Glu498Lys
NM_001167945.2:c.1459G>A (CACNB2)	NP_001161417.1:p.Glu487Lys
NM_001330060.2:c.1378G>A (CACNB2)	NP_001316989.1:p.Glu460Lys
NM_201570.3:c.1513G>A (CACNB2)	NP_963864.1:p.Glu505Lys
NM_201571.4:c.1573G>A (CACNB2)	NP_963865.2:p.Glu525Lys
NM_201572.4:c.1501G>A (CACNB2)	NP_963866.2:p.Glu501Lys
NM_201590.3:c.1495G>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu499Lys
NM_201593.3:c.1543G>A (CACNB2)	NP_963887.2:p.Glu515Lys
NM_201596.3:c.1657G>A (CACNB2) MANE Select	NP_963890.2:p.Glu553Lys
NM_201597.3:c.1585G>A (CACNB2)	NP_963891.1:p.Glu529Lys