Canonical Allele Identifier: CA5430169

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs752545664
• ExAC: 10:18828455 C / CG
• gnomAD v2: 10-18828455-C-CG
• gnomAD v4: 10-18539526-C-CG
• MyVariant Identifiers: chr10:g.18828455_18828456insG (hg19) ; chr10:g.18539526_18539527insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539529dup , CM000672.2:g.18539529dup	GRCh38
NC_000010.10:g.18828458dup , CM000672.1:g.18828458dup	GRCh37
NC_000010.9:g.18868464dup	NCBI36
NG_016195.1:g.403853dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1644dup (CACNB2)	ENSP00000366532.4:p.Ser549GlufsTer3
ENST00000377319.9:c.1509dup (CACNB2)	ENSP00000366536.3:p.Ser504GlufsTer3
ENST00000645287.2:c.1632dup (CACNB2)	ENSP00000496203.1:p.Ser545GlufsTer3
ENST00000282343.13:c.1704dup (CACNB2)	ENSP00000282343.8:p.Ser569GlufsTer3
ENST00000324631.13:c.1788dup (CACNB2) MANE Select	ENSP00000320025.8:p.Ser597GlufsTer3
ENST00000377315.5:c.1644dup (CACNB2)	ENSP00000366532.4:p.Ser549GlufsTer3
ENST00000377319.8:c.1509dup (CACNB2)	ENSP00000366536.3:p.Ser504GlufsTer3
ENST00000377329.10:c.1626dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ser543GlufsTer3
ENST00000377331.8:c.1413dup (CACNB2)	ENSP00000366548.4:p.Ser472GlufsTer3
ENST00000643096.2:c.1590dup (CACNB2)	ENSP00000494209.2:p.Ser531GlufsTer3
ENST00000645287.1:c.1632dup (CACNB2)	ENSP00000496203.1:p.Ser545GlufsTer3
ENST00000647168.2:c.*929dup (CACNB2)	ENSP00000495854.2:n.*929dup
ENST00000650685.1:c.1530dup (CACNB2)	ENSP00000498460.1:p.Ser511GlufsTer3
ENST00000651330.1:c.*1062dup (CACNB2)	ENSP00000498457.1:n.*1062dup
ENST00000651468.1:c.1345dup (CACNB2)	ENSP00000498352.1:n.1345dup
ENST00000651928.1:c.*1027dup (CACNB2)	ENSP00000499177.1:n.*1027dup
ENST00000652391.1:c.1608dup (CACNB2)	ENSP00000498938.1:p.Ser537GlufsTer3
ENST00000652478.1:c.*888dup (CACNB2)	ENSP00000498812.1:n.*888dup
ENST00000282343.12:c.1704dup (CACNB2)	ENSP00000282343.8:p.Ser569GlufsTer3
ENST00000324631.11:c.1788dup (CACNB2)	ENSP00000320025.7:p.Ser597GlufsTer3
ENST00000352115.10:c.1716dup (CACNB2)	ENSP00000344474.6:p.Ser573GlufsTer3
ENST00000377315.4:c.1644dup (CACNB2)	ENSP00000366532.4:p.Ser549GlufsTer3
ENST00000377319.7:c.1509dup (CACNB2)	ENSP00000366536.3:p.Ser504GlufsTer3
ENST00000377328.5:c.1038dup (CACNB2)	ENSP00000366545.1:p.Ser347GlufsTer3
ENST00000377329.8:c.1626dup (CACNB2)	ENSP00000366546.4:p.Ser543GlufsTer3
ENST00000377331.6:c.1632dup (CACNB2)	ENSP00000366548.2:p.Ser545GlufsTer3
ENST00000396576.6:c.1623dup (CACNB2)	ENSP00000379821.2:p.Ser542GlufsTer3
ENST00000612134.4:c.1492dup (CACNB2)	ENSP00000480563.1:n.1492dup
ENST00000612743.1:c.300dup (CACNB2)	ENSP00000478676.1:p.Ser101GlufsTer3
ENST00000615785.4:c.873dup (CACNB2)	ENSP00000480260.1:p.Ser292GlufsTer3
ENST00000617363.4:c.1551dup (CACNB2)	ENSP00000479756.1:p.Ser518GlufsTer3
NM_000724.3:c.1623dup (CACNB2)	NP_000715.2:p.Ser542GlufsTer3
NM_001167945.1:c.1590dup (CACNB2)	NP_001161417.1:p.Ser531GlufsTer3
NM_201570.2:c.1644dup (CACNB2)	NP_963864.1:p.Ser549GlufsTer3
NM_201571.3:c.1704dup (CACNB2)	NP_963865.2:p.Ser569GlufsTer3
NM_201572.3:c.1632dup (CACNB2)	NP_963866.2:p.Ser545GlufsTer3
NM_201590.2:c.1626dup (CACNB2)	NP_963884.2:p.Ser543GlufsTer3
NM_201593.2:c.1674dup (CACNB2)	NP_963887.2:p.Ser559GlufsTer3
NM_201596.2:c.1788dup (CACNB2)	NP_963890.2:p.Ser597GlufsTer3
NM_201597.2:c.1716dup (CACNB2)	NP_963891.1:p.Ser573GlufsTer3
XM_005252588.2:c.1530dup (CACNB2)	XP_005252645.1:p.Ser511GlufsTer3
XM_005252591.2:c.948dup (CACNB2)	XP_005252648.1:p.Ser317GlufsTer3
XM_006717502.2:c.1608dup (CACNB2)	XP_006717565.1:p.Ser537GlufsTer3
XM_011519659.1:c.1554dup (CACNB2)	XP_011517961.1:p.Ser519GlufsTer3
XM_011519660.1:c.1509dup (CACNB2)	XP_011517962.1:p.Ser504GlufsTer3
NM_001330060.1:c.1509dup (CACNB2)	NP_001316989.1:p.Ser504GlufsTer3
XM_005252588.4:c.1530dup (CACNB2)	XP_005252645.1:p.Ser511GlufsTer3
XM_005252591.3:c.948dup (CACNB2)	XP_005252648.1:p.Ser317GlufsTer3
XM_006717502.3:c.1608dup (CACNB2)	XP_006717565.1:p.Ser537GlufsTer3
XM_011519659.2:c.1554dup (CACNB2)	XP_011517961.1:p.Ser519GlufsTer3
XM_017016625.1:c.948dup (CACNB2)	XP_016872114.1:p.Ser317GlufsTer3
XR_001747060.1:n.2423+2542dup (NSUN6)
XR_001747198.1:n.1913dup (CACNB2)
NM_000724.4:c.1623dup (CACNB2)	NP_000715.2:p.Ser542GlufsTer3
NM_001167945.2:c.1590dup (CACNB2)	NP_001161417.1:p.Ser531GlufsTer3
NM_001330060.2:c.1509dup (CACNB2)	NP_001316989.1:p.Ser504GlufsTer3
NM_201570.3:c.1644dup (CACNB2)	NP_963864.1:p.Ser549GlufsTer3
NM_201571.4:c.1704dup (CACNB2)	NP_963865.2:p.Ser569GlufsTer3
NM_201572.4:c.1632dup (CACNB2)	NP_963866.2:p.Ser545GlufsTer3
NM_201590.3:c.1626dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ser543GlufsTer3
NM_201593.3:c.1674dup (CACNB2)	NP_963887.2:p.Ser559GlufsTer3
NM_201596.3:c.1788dup (CACNB2) MANE Select	NP_963890.2:p.Ser597GlufsTer3
NM_201597.3:c.1716dup (CACNB2)	NP_963891.1:p.Ser573GlufsTer3