Canonical Allele Identifier: CA5430151

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 1775749
• ClinVar RCV Id: RCV002392666
• dbSNP Id: rs201553205
• ExAC: 10:18828415 A / G
• gnomAD v2: 10-18828415-A-G
• gnomAD v3: 10-18539486-A-G
• gnomAD v4: 10-18539486-A-G
• MyVariant Identifiers: chr10:g.18828415A>G (hg19) ; chr10:g.18539486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539486A>G , CM000672.2:g.18539486A>G	GRCh38
NC_000010.10:g.18828415A>G , CM000672.1:g.18828415A>G	GRCh37
NC_000010.9:g.18868421A>G	NCBI36
NG_016195.1:g.403810A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1601A>G (CACNB2)	ENSP00000366532.4:p.Tyr534Cys
ENST00000377319.9:c.1466A>G (CACNB2)	ENSP00000366536.3:p.Tyr489Cys
ENST00000645287.2:c.1589A>G (CACNB2)	ENSP00000496203.1:p.Tyr530Cys
ENST00000282343.13:c.1661A>G (CACNB2)	ENSP00000282343.8:p.Tyr554Cys
ENST00000324631.13:c.1745A>G (CACNB2) MANE Select	ENSP00000320025.8:p.Tyr582Cys
ENST00000377315.5:c.1601A>G (CACNB2)	ENSP00000366532.4:p.Tyr534Cys
ENST00000377319.8:c.1466A>G (CACNB2)	ENSP00000366536.3:p.Tyr489Cys
ENST00000377329.10:c.1583A>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Tyr528Cys
ENST00000377331.8:c.1370A>G (CACNB2)	ENSP00000366548.4:p.Tyr457Cys
ENST00000643096.2:c.1547A>G (CACNB2)	ENSP00000494209.2:p.Tyr516Cys
ENST00000645287.1:c.1589A>G (CACNB2)	ENSP00000496203.1:p.Tyr530Cys
ENST00000647168.2:c.*886A>G (CACNB2)	ENSP00000495854.2:n.*886A>G
ENST00000650685.1:c.1487A>G (CACNB2)	ENSP00000498460.1:p.Tyr496Cys
ENST00000651330.1:c.*1019A>G (CACNB2)	ENSP00000498457.1:n.*1019A>G
ENST00000651468.1:c.1302A>G (CACNB2)	ENSP00000498352.1:n.1302A>G
ENST00000651928.1:c.*984A>G (CACNB2)	ENSP00000499177.1:n.*984A>G
ENST00000652391.1:c.1565A>G (CACNB2)	ENSP00000498938.1:p.Tyr522Cys
ENST00000652478.1:c.*845A>G (CACNB2)	ENSP00000498812.1:n.*845A>G
ENST00000282343.12:c.1661A>G (CACNB2)	ENSP00000282343.8:p.Tyr554Cys
ENST00000324631.11:c.1745A>G (CACNB2)	ENSP00000320025.7:p.Tyr582Cys
ENST00000352115.10:c.1673A>G (CACNB2)	ENSP00000344474.6:p.Tyr558Cys
ENST00000377315.4:c.1601A>G (CACNB2)	ENSP00000366532.4:p.Tyr534Cys
ENST00000377319.7:c.1466A>G (CACNB2)	ENSP00000366536.3:p.Tyr489Cys
ENST00000377328.5:c.995A>G (CACNB2)	ENSP00000366545.1:p.Tyr332Cys
ENST00000377329.8:c.1583A>G (CACNB2)	ENSP00000366546.4:p.Tyr528Cys
ENST00000377331.6:c.1589A>G (CACNB2)	ENSP00000366548.2:p.Tyr530Cys
ENST00000396576.6:c.1580A>G (CACNB2)	ENSP00000379821.2:p.Tyr527Cys
ENST00000612134.4:c.1449A>G (CACNB2)	ENSP00000480563.1:n.1449A>G
ENST00000612743.1:c.257A>G (CACNB2)	ENSP00000478676.1:p.Tyr86Cys
ENST00000615785.4:c.830A>G (CACNB2)	ENSP00000480260.1:p.Tyr277Cys
ENST00000617363.4:c.1508A>G (CACNB2)	ENSP00000479756.1:p.Tyr503Cys
NM_000724.3:c.1580A>G (CACNB2)	NP_000715.2:p.Tyr527Cys
NM_001167945.1:c.1547A>G (CACNB2)	NP_001161417.1:p.Tyr516Cys
NM_201570.2:c.1601A>G (CACNB2)	NP_963864.1:p.Tyr534Cys
NM_201571.3:c.1661A>G (CACNB2)	NP_963865.2:p.Tyr554Cys
NM_201572.3:c.1589A>G (CACNB2)	NP_963866.2:p.Tyr530Cys
NM_201590.2:c.1583A>G (CACNB2)	NP_963884.2:p.Tyr528Cys
NM_201593.2:c.1631A>G (CACNB2)	NP_963887.2:p.Tyr544Cys
NM_201596.2:c.1745A>G (CACNB2)	NP_963890.2:p.Tyr582Cys
NM_201597.2:c.1673A>G (CACNB2)	NP_963891.1:p.Tyr558Cys
XM_005252588.2:c.1487A>G (CACNB2)	XP_005252645.1:p.Tyr496Cys
XM_005252591.2:c.905A>G (CACNB2)	XP_005252648.1:p.Tyr302Cys
XM_006717502.2:c.1565A>G (CACNB2)	XP_006717565.1:p.Tyr522Cys
XM_011519659.1:c.1511A>G (CACNB2)	XP_011517961.1:p.Tyr504Cys
XM_011519660.1:c.1466A>G (CACNB2)	XP_011517962.1:p.Tyr489Cys
NM_001330060.1:c.1466A>G (CACNB2)	NP_001316989.1:p.Tyr489Cys
XM_005252588.4:c.1487A>G (CACNB2)	XP_005252645.1:p.Tyr496Cys
XM_005252591.3:c.905A>G (CACNB2)	XP_005252648.1:p.Tyr302Cys
XM_006717502.3:c.1565A>G (CACNB2)	XP_006717565.1:p.Tyr522Cys
XM_011519659.2:c.1511A>G (CACNB2)	XP_011517961.1:p.Tyr504Cys
XM_017016625.1:c.905A>G (CACNB2)	XP_016872114.1:p.Tyr302Cys
XR_001747060.1:n.2423+2583T>C (NSUN6)
XR_001747198.1:n.1870A>G (CACNB2)
NM_000724.4:c.1580A>G (CACNB2)	NP_000715.2:p.Tyr527Cys
NM_001167945.2:c.1547A>G (CACNB2)	NP_001161417.1:p.Tyr516Cys
NM_001330060.2:c.1466A>G (CACNB2)	NP_001316989.1:p.Tyr489Cys
NM_201570.3:c.1601A>G (CACNB2)	NP_963864.1:p.Tyr534Cys
NM_201571.4:c.1661A>G (CACNB2)	NP_963865.2:p.Tyr554Cys
NM_201572.4:c.1589A>G (CACNB2)	NP_963866.2:p.Tyr530Cys
NM_201590.3:c.1583A>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Tyr528Cys
NM_201593.3:c.1631A>G (CACNB2)	NP_963887.2:p.Tyr544Cys
NM_201596.3:c.1745A>G (CACNB2) MANE Select	NP_963890.2:p.Tyr582Cys
NM_201597.3:c.1673A>G (CACNB2)	NP_963891.1:p.Tyr558Cys