Canonical Allele Identifier: CA1894173849

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 1007826
• ClinVar RCV Id: RCV001305065
• dbSNP Id: rs2053942119

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539563_18539574dup , CM000672.2:g.18539563_18539574dup	GRCh38
NC_000010.10:g.18828492_18828503dup , CM000672.1:g.18828492_18828503dup	GRCh37
NC_000010.9:g.18868498_18868509dup	NCBI36
NG_016195.1:g.403887_403898dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1678_1689dup (CACNB2)	ENSP00000366532.4:p.Asp563_Val564insArgSerArgAsp
ENST00000377319.9:c.1543_1554dup (CACNB2)	ENSP00000366536.3:p.Asp518_Val519insArgSerArgAsp
ENST00000645287.2:c.1666_1677dup (CACNB2)	ENSP00000496203.1:p.Asp559_Val560insArgSerArgAsp
ENST00000282343.13:c.1738_1749dup (CACNB2)	ENSP00000282343.8:p.Asp583_Val584insArgSerArgAsp
ENST00000324631.13:c.1822_1833dup (CACNB2) MANE Select	ENSP00000320025.8:p.Asp611_Val612insArgSerArgAsp
ENST00000377315.5:c.1678_1689dup (CACNB2)	ENSP00000366532.4:p.Asp563_Val564insArgSerArgAsp
ENST00000377319.8:c.1543_1554dup (CACNB2)	ENSP00000366536.3:p.Asp518_Val519insArgSerArgAsp
ENST00000377329.10:c.1660_1671dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp557_Val558insArgSerArgAsp
ENST00000377331.8:c.1447_1458dup (CACNB2)	ENSP00000366548.4:p.Asp486_Val487insArgSerArgAsp
ENST00000643096.2:c.1624_1635dup (CACNB2)	ENSP00000494209.2:p.Asp545_Val546insArgSerArgAsp
ENST00000645287.1:c.1666_1677dup (CACNB2)	ENSP00000496203.1:p.Asp559_Val560insArgSerArgAsp
ENST00000647168.2:c.*963_*974dup (CACNB2)	ENSP00000495854.2:n.*963_*974dup
ENST00000650685.1:c.1564_1575dup (CACNB2)	ENSP00000498460.1:p.Asp525_Val526insArgSerArgAsp
ENST00000651330.1:c.*1096_*1107dup (CACNB2)	ENSP00000498457.1:n.*1096_*1107dup
ENST00000651468.1:c.1379_1390dup (CACNB2)	ENSP00000498352.1:n.1379_1390dup
ENST00000651928.1:c.*1061_*1072dup (CACNB2)	ENSP00000499177.1:n.*1061_*1072dup
ENST00000652391.1:c.1642_1653dup (CACNB2)	ENSP00000498938.1:p.Asp551_Val552insArgSerArgAsp
ENST00000652478.1:c.*922_*933dup (CACNB2)	ENSP00000498812.1:n.*922_*933dup
ENST00000282343.12:c.1738_1749dup (CACNB2)	ENSP00000282343.8:p.Asp583_Val584insArgSerArgAsp
ENST00000324631.11:c.1822_1833dup (CACNB2)	ENSP00000320025.7:p.Asp611_Val612insArgSerArgAsp
ENST00000352115.10:c.1750_1761dup (CACNB2)	ENSP00000344474.6:p.Asp587_Val588insArgSerArgAsp
ENST00000377315.4:c.1678_1689dup (CACNB2)	ENSP00000366532.4:p.Asp563_Val564insArgSerArgAsp
ENST00000377319.7:c.1543_1554dup (CACNB2)	ENSP00000366536.3:p.Asp518_Val519insArgSerArgAsp
ENST00000377328.5:c.1072_1083dup (CACNB2)	ENSP00000366545.1:p.Asp361_Val362insArgSerArgAsp
ENST00000377329.8:c.1660_1671dup (CACNB2)	ENSP00000366546.4:p.Asp557_Val558insArgSerArgAsp
ENST00000377331.6:c.1666_1677dup (CACNB2)	ENSP00000366548.2:p.Asp559_Val560insArgSerArgAsp
ENST00000396576.6:c.1657_1668dup (CACNB2)	ENSP00000379821.2:p.Asp556_Val557insArgSerArgAsp
ENST00000612134.4:c.1526_1537dup (CACNB2)	ENSP00000480563.1:n.1526_1537dup
ENST00000612743.1:c.334_345dup (CACNB2)	ENSP00000478676.1:p.Asp115_Val116insArgSerArgAsp
ENST00000615785.4:c.907_918dup (CACNB2)	ENSP00000480260.1:p.Asp306_Val307insArgSerArgAsp
ENST00000617363.4:c.1585_1596dup (CACNB2)	ENSP00000479756.1:p.Asp532_Val533insArgSerArgAsp
NM_000724.3:c.1657_1668dup (CACNB2)	NP_000715.2:p.Asp556_Val557insArgSerArgAsp
NM_001167945.1:c.1624_1635dup (CACNB2)	NP_001161417.1:p.Asp545_Val546insArgSerArgAsp
NM_201570.2:c.1678_1689dup (CACNB2)	NP_963864.1:p.Asp563_Val564insArgSerArgAsp
NM_201571.3:c.1738_1749dup (CACNB2)	NP_963865.2:p.Asp583_Val584insArgSerArgAsp
NM_201572.3:c.1666_1677dup (CACNB2)	NP_963866.2:p.Asp559_Val560insArgSerArgAsp
NM_201590.2:c.1660_1671dup (CACNB2)	NP_963884.2:p.Asp557_Val558insArgSerArgAsp
NM_201593.2:c.1708_1719dup (CACNB2)	NP_963887.2:p.Asp573_Val574insArgSerArgAsp
NM_201596.2:c.1822_1833dup (CACNB2)	NP_963890.2:p.Asp611_Val612insArgSerArgAsp
NM_201597.2:c.1750_1761dup (CACNB2)	NP_963891.1:p.Asp587_Val588insArgSerArgAsp
XM_005252588.2:c.1564_1575dup (CACNB2)	XP_005252645.1:p.Asp525_Val526insArgSerArgAsp
XM_005252591.2:c.982_993dup (CACNB2)	XP_005252648.1:p.Asp331_Val332insArgSerArgAsp
XM_006717502.2:c.1642_1653dup (CACNB2)	XP_006717565.1:p.Asp551_Val552insArgSerArgAsp
XM_011519659.1:c.1588_1599dup (CACNB2)	XP_011517961.1:p.Asp533_Val534insArgSerArgAsp
XM_011519660.1:c.1543_1554dup (CACNB2)	XP_011517962.1:p.Asp518_Val519insArgSerArgAsp
NM_001330060.1:c.1543_1554dup (CACNB2)	NP_001316989.1:p.Asp518_Val519insArgSerArgAsp
XM_005252588.4:c.1564_1575dup (CACNB2)	XP_005252645.1:p.Asp525_Val526insArgSerArgAsp
XM_005252591.3:c.982_993dup (CACNB2)	XP_005252648.1:p.Asp331_Val332insArgSerArgAsp
XM_006717502.3:c.1642_1653dup (CACNB2)	XP_006717565.1:p.Asp551_Val552insArgSerArgAsp
XM_011519659.2:c.1588_1599dup (CACNB2)	XP_011517961.1:p.Asp533_Val534insArgSerArgAsp
XM_017016625.1:c.982_993dup (CACNB2)	XP_016872114.1:p.Asp331_Val332insArgSerArgAsp
XR_001747060.1:n.2423+2497_2423+2508dup (NSUN6)
XR_001747198.1:n.1947_1958dup (CACNB2)
NM_000724.4:c.1657_1668dup (CACNB2)	NP_000715.2:p.Asp556_Val557insArgSerArgAsp
NM_001167945.2:c.1624_1635dup (CACNB2)	NP_001161417.1:p.Asp545_Val546insArgSerArgAsp
NM_001330060.2:c.1543_1554dup (CACNB2)	NP_001316989.1:p.Asp518_Val519insArgSerArgAsp
NM_201570.3:c.1678_1689dup (CACNB2)	NP_963864.1:p.Asp563_Val564insArgSerArgAsp
NM_201571.4:c.1738_1749dup (CACNB2)	NP_963865.2:p.Asp583_Val584insArgSerArgAsp
NM_201572.4:c.1666_1677dup (CACNB2)	NP_963866.2:p.Asp559_Val560insArgSerArgAsp
NM_201590.3:c.1660_1671dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp557_Val558insArgSerArgAsp
NM_201593.3:c.1708_1719dup (CACNB2)	NP_963887.2:p.Asp573_Val574insArgSerArgAsp
NM_201596.3:c.1822_1833dup (CACNB2) MANE Select	NP_963890.2:p.Asp611_Val612insArgSerArgAsp
NM_201597.3:c.1750_1761dup (CACNB2)	NP_963891.1:p.Asp587_Val588insArgSerArgAsp