Canonical Allele Identifier: CA5430163

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 1419126
• ClinVar RCV Id: RCV001954591
• dbSNP Id: rs776532519
• ExAC: 10:18828438 C / A
• gnomAD v2: 10-18828438-C-A
• gnomAD v3: 10-18539509-C-A
• gnomAD v4: 10-18539509-C-A
• MyVariant Identifiers: chr10:g.18828438C>A (hg19) ; chr10:g.18539509C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539509C>A , CM000672.2:g.18539509C>A	GRCh38
NC_000010.10:g.18828438C>A , CM000672.1:g.18828438C>A	GRCh37
NC_000010.9:g.18868444C>A	NCBI36
NG_016195.1:g.403833C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1624C>A (CACNB2)	ENSP00000366532.4:p.His542Asn
ENST00000377319.9:c.1489C>A (CACNB2)	ENSP00000366536.3:p.His497Asn
ENST00000645287.2:c.1612C>A (CACNB2)	ENSP00000496203.1:p.His538Asn
ENST00000282343.13:c.1684C>A (CACNB2)	ENSP00000282343.8:p.His562Asn
ENST00000324631.13:c.1768C>A (CACNB2) MANE Select	ENSP00000320025.8:p.His590Asn
ENST00000377315.5:c.1624C>A (CACNB2)	ENSP00000366532.4:p.His542Asn
ENST00000377319.8:c.1489C>A (CACNB2)	ENSP00000366536.3:p.His497Asn
ENST00000377329.10:c.1606C>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His536Asn
ENST00000377331.8:c.1393C>A (CACNB2)	ENSP00000366548.4:p.His465Asn
ENST00000643096.2:c.1570C>A (CACNB2)	ENSP00000494209.2:p.His524Asn
ENST00000645287.1:c.1612C>A (CACNB2)	ENSP00000496203.1:p.His538Asn
ENST00000647168.2:c.*909C>A (CACNB2)	ENSP00000495854.2:n.*909C>A
ENST00000650685.1:c.1510C>A (CACNB2)	ENSP00000498460.1:p.His504Asn
ENST00000651330.1:c.*1042C>A (CACNB2)	ENSP00000498457.1:n.*1042C>A
ENST00000651468.1:c.1325C>A (CACNB2)	ENSP00000498352.1:n.1325C>A
ENST00000651928.1:c.*1007C>A (CACNB2)	ENSP00000499177.1:n.*1007C>A
ENST00000652391.1:c.1588C>A (CACNB2)	ENSP00000498938.1:p.His530Asn
ENST00000652478.1:c.*868C>A (CACNB2)	ENSP00000498812.1:n.*868C>A
ENST00000282343.12:c.1684C>A (CACNB2)	ENSP00000282343.8:p.His562Asn
ENST00000324631.11:c.1768C>A (CACNB2)	ENSP00000320025.7:p.His590Asn
ENST00000352115.10:c.1696C>A (CACNB2)	ENSP00000344474.6:p.His566Asn
ENST00000377315.4:c.1624C>A (CACNB2)	ENSP00000366532.4:p.His542Asn
ENST00000377319.7:c.1489C>A (CACNB2)	ENSP00000366536.3:p.His497Asn
ENST00000377328.5:c.1018C>A (CACNB2)	ENSP00000366545.1:p.His340Asn
ENST00000377329.8:c.1606C>A (CACNB2)	ENSP00000366546.4:p.His536Asn
ENST00000377331.6:c.1612C>A (CACNB2)	ENSP00000366548.2:p.His538Asn
ENST00000396576.6:c.1603C>A (CACNB2)	ENSP00000379821.2:p.His535Asn
ENST00000612134.4:c.1472C>A (CACNB2)	ENSP00000480563.1:n.1472C>A
ENST00000612743.1:c.280C>A (CACNB2)	ENSP00000478676.1:p.His94Asn
ENST00000615785.4:c.853C>A (CACNB2)	ENSP00000480260.1:p.His285Asn
ENST00000617363.4:c.1531C>A (CACNB2)	ENSP00000479756.1:p.His511Asn
NM_000724.3:c.1603C>A (CACNB2)	NP_000715.2:p.His535Asn
NM_001167945.1:c.1570C>A (CACNB2)	NP_001161417.1:p.His524Asn
NM_201570.2:c.1624C>A (CACNB2)	NP_963864.1:p.His542Asn
NM_201571.3:c.1684C>A (CACNB2)	NP_963865.2:p.His562Asn
NM_201572.3:c.1612C>A (CACNB2)	NP_963866.2:p.His538Asn
NM_201590.2:c.1606C>A (CACNB2)	NP_963884.2:p.His536Asn
NM_201593.2:c.1654C>A (CACNB2)	NP_963887.2:p.His552Asn
NM_201596.2:c.1768C>A (CACNB2)	NP_963890.2:p.His590Asn
NM_201597.2:c.1696C>A (CACNB2)	NP_963891.1:p.His566Asn
XM_005252588.2:c.1510C>A (CACNB2)	XP_005252645.1:p.His504Asn
XM_005252591.2:c.928C>A (CACNB2)	XP_005252648.1:p.His310Asn
XM_006717502.2:c.1588C>A (CACNB2)	XP_006717565.1:p.His530Asn
XM_011519659.1:c.1534C>A (CACNB2)	XP_011517961.1:p.His512Asn
XM_011519660.1:c.1489C>A (CACNB2)	XP_011517962.1:p.His497Asn
NM_001330060.1:c.1489C>A (CACNB2)	NP_001316989.1:p.His497Asn
XM_005252588.4:c.1510C>A (CACNB2)	XP_005252645.1:p.His504Asn
XM_005252591.3:c.928C>A (CACNB2)	XP_005252648.1:p.His310Asn
XM_006717502.3:c.1588C>A (CACNB2)	XP_006717565.1:p.His530Asn
XM_011519659.2:c.1534C>A (CACNB2)	XP_011517961.1:p.His512Asn
XM_017016625.1:c.928C>A (CACNB2)	XP_016872114.1:p.His310Asn
XR_001747060.1:n.2423+2560G>T (NSUN6)
XR_001747198.1:n.1893C>A (CACNB2)
NM_000724.4:c.1603C>A (CACNB2)	NP_000715.2:p.His535Asn
NM_001167945.2:c.1570C>A (CACNB2)	NP_001161417.1:p.His524Asn
NM_001330060.2:c.1489C>A (CACNB2)	NP_001316989.1:p.His497Asn
NM_201570.3:c.1624C>A (CACNB2)	NP_963864.1:p.His542Asn
NM_201571.4:c.1684C>A (CACNB2)	NP_963865.2:p.His562Asn
NM_201572.4:c.1612C>A (CACNB2)	NP_963866.2:p.His538Asn
NM_201590.3:c.1606C>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.His536Asn
NM_201593.3:c.1654C>A (CACNB2)	NP_963887.2:p.His552Asn
NM_201596.3:c.1768C>A (CACNB2) MANE Select	NP_963890.2:p.His590Asn
NM_201597.3:c.1696C>A (CACNB2)	NP_963891.1:p.His566Asn