Canonical Allele Identifier: CA376071746

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 3230193
• ClinVar RCV Id: RCV004520344
• MyVariant Identifiers: chr10:g.18828355G>A (hg19) ; chr10:g.18539426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539426G>A , CM000672.2:g.18539426G>A	GRCh38
NC_000010.10:g.18828355G>A , CM000672.1:g.18828355G>A	GRCh37
NC_000010.9:g.18868361G>A	NCBI36
NG_016195.1:g.403750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1541G>A (CACNB2)	ENSP00000366532.4:p.Ser514Asn
ENST00000377319.9:c.1406G>A (CACNB2)	ENSP00000366536.3:p.Ser469Asn
ENST00000645287.2:c.1529G>A (CACNB2)	ENSP00000496203.1:p.Ser510Asn
ENST00000282343.13:c.1601G>A (CACNB2)	ENSP00000282343.8:p.Ser534Asn
ENST00000324631.13:c.1685G>A (CACNB2) MANE Select	ENSP00000320025.8:p.Ser562Asn
ENST00000377315.5:c.1541G>A (CACNB2)	ENSP00000366532.4:p.Ser514Asn
ENST00000377319.8:c.1406G>A (CACNB2)	ENSP00000366536.3:p.Ser469Asn
ENST00000377329.10:c.1523G>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser508Asn
ENST00000377331.8:c.1310G>A (CACNB2)	ENSP00000366548.4:p.Ser437Asn
ENST00000643096.2:c.1487G>A (CACNB2)	ENSP00000494209.2:p.Ser496Asn
ENST00000645287.1:c.1529G>A (CACNB2)	ENSP00000496203.1:p.Ser510Asn
ENST00000647168.2:c.*826G>A (CACNB2)	ENSP00000495854.2:n.*826G>A
ENST00000650685.1:c.1427G>A (CACNB2)	ENSP00000498460.1:p.Ser476Asn
ENST00000651330.1:c.*959G>A (CACNB2)	ENSP00000498457.1:n.*959G>A
ENST00000651468.1:c.1242G>A (CACNB2)	ENSP00000498352.1:n.1242G>A
ENST00000651928.1:c.*924G>A (CACNB2)	ENSP00000499177.1:n.*924G>A
ENST00000652391.1:c.1505G>A (CACNB2)	ENSP00000498938.1:p.Ser502Asn
ENST00000652478.1:c.*785G>A (CACNB2)	ENSP00000498812.1:n.*785G>A
ENST00000282343.12:c.1601G>A (CACNB2)	ENSP00000282343.8:p.Ser534Asn
ENST00000324631.11:c.1685G>A (CACNB2)	ENSP00000320025.7:p.Ser562Asn
ENST00000352115.10:c.1613G>A (CACNB2)	ENSP00000344474.6:p.Ser538Asn
ENST00000377315.4:c.1541G>A (CACNB2)	ENSP00000366532.4:p.Ser514Asn
ENST00000377319.7:c.1406G>A (CACNB2)	ENSP00000366536.3:p.Ser469Asn
ENST00000377328.5:c.935G>A (CACNB2)	ENSP00000366545.1:p.Ser312Asn
ENST00000377329.8:c.1523G>A (CACNB2)	ENSP00000366546.4:p.Ser508Asn
ENST00000377331.6:c.1529G>A (CACNB2)	ENSP00000366548.2:p.Ser510Asn
ENST00000396576.6:c.1520G>A (CACNB2)	ENSP00000379821.2:p.Ser507Asn
ENST00000612134.4:c.1389G>A (CACNB2)	ENSP00000480563.1:n.1389G>A
ENST00000612743.1:c.197G>A (CACNB2)	ENSP00000478676.1:p.Ser66Asn
ENST00000615785.4:c.770G>A (CACNB2)	ENSP00000480260.1:p.Ser257Asn
ENST00000617363.4:c.1448G>A (CACNB2)	ENSP00000479756.1:p.Ser483Asn
NM_000724.3:c.1520G>A (CACNB2)	NP_000715.2:p.Ser507Asn
NM_001167945.1:c.1487G>A (CACNB2)	NP_001161417.1:p.Ser496Asn
NM_201570.2:c.1541G>A (CACNB2)	NP_963864.1:p.Ser514Asn
NM_201571.3:c.1601G>A (CACNB2)	NP_963865.2:p.Ser534Asn
NM_201572.3:c.1529G>A (CACNB2)	NP_963866.2:p.Ser510Asn
NM_201590.2:c.1523G>A (CACNB2)	NP_963884.2:p.Ser508Asn
NM_201593.2:c.1571G>A (CACNB2)	NP_963887.2:p.Ser524Asn
NM_201596.2:c.1685G>A (CACNB2)	NP_963890.2:p.Ser562Asn
NM_201597.2:c.1613G>A (CACNB2)	NP_963891.1:p.Ser538Asn
XM_005252588.2:c.1427G>A (CACNB2)	XP_005252645.1:p.Ser476Asn
XM_005252591.2:c.845G>A (CACNB2)	XP_005252648.1:p.Ser282Asn
XM_006717502.2:c.1505G>A (CACNB2)	XP_006717565.1:p.Ser502Asn
XM_011519659.1:c.1451G>A (CACNB2)	XP_011517961.1:p.Ser484Asn
XM_011519660.1:c.1406G>A (CACNB2)	XP_011517962.1:p.Ser469Asn
NM_001330060.1:c.1406G>A (CACNB2)	NP_001316989.1:p.Ser469Asn
XM_005252588.4:c.1427G>A (CACNB2)	XP_005252645.1:p.Ser476Asn
XM_005252591.3:c.845G>A (CACNB2)	XP_005252648.1:p.Ser282Asn
XM_006717502.3:c.1505G>A (CACNB2)	XP_006717565.1:p.Ser502Asn
XM_011519659.2:c.1451G>A (CACNB2)	XP_011517961.1:p.Ser484Asn
XM_017016625.1:c.845G>A (CACNB2)	XP_016872114.1:p.Ser282Asn
XR_001747060.1:n.2423+2643C>T (NSUN6)
XR_001747198.1:n.1810G>A (CACNB2)
NM_000724.4:c.1520G>A (CACNB2)	NP_000715.2:p.Ser507Asn
NM_001167945.2:c.1487G>A (CACNB2)	NP_001161417.1:p.Ser496Asn
NM_001330060.2:c.1406G>A (CACNB2)	NP_001316989.1:p.Ser469Asn
NM_201570.3:c.1541G>A (CACNB2)	NP_963864.1:p.Ser514Asn
NM_201571.4:c.1601G>A (CACNB2)	NP_963865.2:p.Ser534Asn
NM_201572.4:c.1529G>A (CACNB2)	NP_963866.2:p.Ser510Asn
NM_201590.3:c.1523G>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser508Asn
NM_201593.3:c.1571G>A (CACNB2)	NP_963887.2:p.Ser524Asn
NM_201596.3:c.1685G>A (CACNB2) MANE Select	NP_963890.2:p.Ser562Asn
NM_201597.3:c.1613G>A (CACNB2)	NP_963891.1:p.Ser538Asn