Canonical Allele Identifier: CA592060474

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs1564677037
• gnomAD v2: 10-18828282-C-CA
• gnomAD v4: 10-18539353-C-CA
• MyVariant Identifiers: chr10:g.18828282_18828283insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539354dup , CM000672.2:g.18539354dup	GRCh38
NC_000010.10:g.18828283dup , CM000672.1:g.18828283dup	GRCh37
NC_000010.9:g.18868289dup	NCBI36
NG_016195.1:g.403678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1469dup (CACNB2)	ENSP00000366532.4:p.His490GlnfsTer19
ENST00000377319.9:c.1334dup (CACNB2)	ENSP00000366536.3:p.His445GlnfsTer19
ENST00000645287.2:c.1457dup (CACNB2)	ENSP00000496203.1:p.His486GlnfsTer19
ENST00000282343.13:c.1529dup (CACNB2)	ENSP00000282343.8:p.His510GlnfsTer19
ENST00000324631.13:c.1613dup (CACNB2) MANE Select	ENSP00000320025.8:p.His538GlnfsTer19
ENST00000377315.5:c.1469dup (CACNB2)	ENSP00000366532.4:p.His490GlnfsTer19
ENST00000377319.8:c.1334dup (CACNB2)	ENSP00000366536.3:p.His445GlnfsTer19
ENST00000377329.10:c.1451dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His484GlnfsTer19
ENST00000377331.8:c.1238dup (CACNB2)	ENSP00000366548.4:p.His413GlnfsTer19
ENST00000643096.2:c.1415dup (CACNB2)	ENSP00000494209.2:p.His472GlnfsTer19
ENST00000645287.1:c.1457dup (CACNB2)	ENSP00000496203.1:p.His486GlnfsTer19
ENST00000647168.2:c.*754dup (CACNB2)	ENSP00000495854.2:n.*754dup
ENST00000650685.1:c.1355dup (CACNB2)	ENSP00000498460.1:p.His452GlnfsTer19
ENST00000651330.1:c.*887dup (CACNB2)	ENSP00000498457.1:n.*887dup
ENST00000651468.1:c.1170dup (CACNB2)	ENSP00000498352.1:n.1170dup
ENST00000651928.1:c.*852dup (CACNB2)	ENSP00000499177.1:n.*852dup
ENST00000652391.1:c.1433dup (CACNB2)	ENSP00000498938.1:p.His478GlnfsTer19
ENST00000652478.1:c.*713dup (CACNB2)	ENSP00000498812.1:n.*713dup
ENST00000282343.12:c.1529dup (CACNB2)	ENSP00000282343.8:p.His510GlnfsTer19
ENST00000324631.11:c.1613dup (CACNB2)	ENSP00000320025.7:p.His538GlnfsTer19
ENST00000352115.10:c.1541dup (CACNB2)	ENSP00000344474.6:p.His514GlnfsTer19
ENST00000377315.4:c.1469dup (CACNB2)	ENSP00000366532.4:p.His490GlnfsTer19
ENST00000377319.7:c.1334dup (CACNB2)	ENSP00000366536.3:p.His445GlnfsTer19
ENST00000377328.5:c.863dup (CACNB2)	ENSP00000366545.1:p.His288GlnfsTer19
ENST00000377329.8:c.1451dup (CACNB2)	ENSP00000366546.4:p.His484GlnfsTer19
ENST00000377331.6:c.1457dup (CACNB2)	ENSP00000366548.2:p.His486GlnfsTer19
ENST00000396576.6:c.1448dup (CACNB2)	ENSP00000379821.2:p.His483GlnfsTer19
ENST00000612134.4:c.1317dup (CACNB2)	ENSP00000480563.1:n.1317dup
ENST00000612743.1:c.125dup (CACNB2)	ENSP00000478676.1:p.His42GlnfsTer19
ENST00000615785.4:c.698dup (CACNB2)	ENSP00000480260.1:p.His233GlnfsTer19
ENST00000617363.4:c.1376dup (CACNB2)	ENSP00000479756.1:p.His459GlnfsTer19
NM_000724.3:c.1448dup (CACNB2)	NP_000715.2:p.His483GlnfsTer19
NM_001167945.1:c.1415dup (CACNB2)	NP_001161417.1:p.His472GlnfsTer19
NM_201570.2:c.1469dup (CACNB2)	NP_963864.1:p.His490GlnfsTer19
NM_201571.3:c.1529dup (CACNB2)	NP_963865.2:p.His510GlnfsTer19
NM_201572.3:c.1457dup (CACNB2)	NP_963866.2:p.His486GlnfsTer19
NM_201590.2:c.1451dup (CACNB2)	NP_963884.2:p.His484GlnfsTer19
NM_201593.2:c.1499dup (CACNB2)	NP_963887.2:p.His500GlnfsTer19
NM_201596.2:c.1613dup (CACNB2)	NP_963890.2:p.His538GlnfsTer19
NM_201597.2:c.1541dup (CACNB2)	NP_963891.1:p.His514GlnfsTer19
XM_005252588.2:c.1355dup (CACNB2)	XP_005252645.1:p.His452GlnfsTer19
XM_005252591.2:c.773dup (CACNB2)	XP_005252648.1:p.His258GlnfsTer19
XM_006717502.2:c.1433dup (CACNB2)	XP_006717565.1:p.His478GlnfsTer19
XM_011519659.1:c.1379dup (CACNB2)	XP_011517961.1:p.His460GlnfsTer19
XM_011519660.1:c.1334dup (CACNB2)	XP_011517962.1:p.His445GlnfsTer19
NM_001330060.1:c.1334dup (CACNB2)	NP_001316989.1:p.His445GlnfsTer19
XM_005252588.4:c.1355dup (CACNB2)	XP_005252645.1:p.His452GlnfsTer19
XM_005252591.3:c.773dup (CACNB2)	XP_005252648.1:p.His258GlnfsTer19
XM_006717502.3:c.1433dup (CACNB2)	XP_006717565.1:p.His478GlnfsTer19
XM_011519659.2:c.1379dup (CACNB2)	XP_011517961.1:p.His460GlnfsTer19
XM_017016625.1:c.773dup (CACNB2)	XP_016872114.1:p.His258GlnfsTer19
XR_001747060.1:n.2423+2715dup (NSUN6)
XR_001747198.1:n.1738dup (CACNB2)
NM_000724.4:c.1448dup (CACNB2)	NP_000715.2:p.His483GlnfsTer19
NM_001167945.2:c.1415dup (CACNB2)	NP_001161417.1:p.His472GlnfsTer19
NM_001330060.2:c.1334dup (CACNB2)	NP_001316989.1:p.His445GlnfsTer19
NM_201570.3:c.1469dup (CACNB2)	NP_963864.1:p.His490GlnfsTer19
NM_201571.4:c.1529dup (CACNB2)	NP_963865.2:p.His510GlnfsTer19
NM_201572.4:c.1457dup (CACNB2)	NP_963866.2:p.His486GlnfsTer19
NM_201590.3:c.1451dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.His484GlnfsTer19
NM_201593.3:c.1499dup (CACNB2)	NP_963887.2:p.His500GlnfsTer19
NM_201596.3:c.1613dup (CACNB2) MANE Select	NP_963890.2:p.His538GlnfsTer19
NM_201597.3:c.1541dup (CACNB2)	NP_963891.1:p.His514GlnfsTer19