Canonical Allele Identifier: CA1894173477

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539461T= , CM000672.2:g.18539461T=	GRCh38
NC_000010.10:g.18828390T= , CM000672.1:g.18828390T=	GRCh37
NC_000010.9:g.18868396T=	NCBI36
NG_016195.1:g.403785T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1576T= (CACNB2)	ENSP00000366532.4:p.Tyr526=
ENST00000377319.9:c.1441T= (CACNB2)	ENSP00000366536.3:p.Tyr481=
ENST00000645287.2:c.1564T= (CACNB2)	ENSP00000496203.1:p.Tyr522=
ENST00000282343.13:c.1636T= (CACNB2)	ENSP00000282343.8:p.Tyr546=
ENST00000324631.13:c.1720T= (CACNB2) MANE Select	ENSP00000320025.8:p.Tyr574=
ENST00000377315.5:c.1576T= (CACNB2)	ENSP00000366532.4:p.Tyr526=
ENST00000377319.8:c.1441T= (CACNB2)	ENSP00000366536.3:p.Tyr481=
ENST00000377329.10:c.1558T= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Tyr520=
ENST00000377331.8:c.1345T= (CACNB2)	ENSP00000366548.4:p.Tyr449=
ENST00000643096.2:c.1522T= (CACNB2)	ENSP00000494209.2:p.Tyr508=
ENST00000645287.1:c.1564T= (CACNB2)	ENSP00000496203.1:p.Tyr522=
ENST00000647168.2:c.*861T= (CACNB2)	ENSP00000495854.2:n.*861T=
ENST00000650685.1:c.1462T= (CACNB2)	ENSP00000498460.1:p.Tyr488=
ENST00000651330.1:c.*994T= (CACNB2)	ENSP00000498457.1:n.*994T=
ENST00000651468.1:c.1277T= (CACNB2)	ENSP00000498352.1:n.1277T=
ENST00000651928.1:c.*959T= (CACNB2)	ENSP00000499177.1:n.*959T=
ENST00000652391.1:c.1540T= (CACNB2)	ENSP00000498938.1:p.Tyr514=
ENST00000652478.1:c.*820T= (CACNB2)	ENSP00000498812.1:n.*820T=
ENST00000282343.12:c.1636T= (CACNB2)	ENSP00000282343.8:p.Tyr546=
ENST00000324631.11:c.1720T= (CACNB2)	ENSP00000320025.7:p.Tyr574=
ENST00000352115.10:c.1648T= (CACNB2)	ENSP00000344474.6:p.Tyr550=
ENST00000377315.4:c.1576T= (CACNB2)	ENSP00000366532.4:p.Tyr526=
ENST00000377319.7:c.1441T= (CACNB2)	ENSP00000366536.3:p.Tyr481=
ENST00000377328.5:c.970T= (CACNB2)	ENSP00000366545.1:p.Tyr324=
ENST00000377329.8:c.1558T= (CACNB2)	ENSP00000366546.4:p.Tyr520=
ENST00000377331.6:c.1564T= (CACNB2)	ENSP00000366548.2:p.Tyr522=
ENST00000396576.6:c.1555T= (CACNB2)	ENSP00000379821.2:p.Tyr519=
ENST00000612134.4:c.1424T= (CACNB2)	ENSP00000480563.1:n.1424T=
ENST00000612743.1:c.232T= (CACNB2)	ENSP00000478676.1:p.Tyr78=
ENST00000615785.4:c.805T= (CACNB2)	ENSP00000480260.1:p.Tyr269=
ENST00000617363.4:c.1483T= (CACNB2)	ENSP00000479756.1:p.Tyr495=
NM_000724.3:c.1555T= (CACNB2)	NP_000715.2:p.Tyr519=
NM_001167945.1:c.1522T= (CACNB2)	NP_001161417.1:p.Tyr508=
NM_201570.2:c.1576T= (CACNB2)	NP_963864.1:p.Tyr526=
NM_201571.3:c.1636T= (CACNB2)	NP_963865.2:p.Tyr546=
NM_201572.3:c.1564T= (CACNB2)	NP_963866.2:p.Tyr522=
NM_201590.2:c.1558T= (CACNB2)	NP_963884.2:p.Tyr520=
NM_201593.2:c.1606T= (CACNB2)	NP_963887.2:p.Tyr536=
NM_201596.2:c.1720T= (CACNB2)	NP_963890.2:p.Tyr574=
NM_201597.2:c.1648T= (CACNB2)	NP_963891.1:p.Tyr550=
XM_005252588.2:c.1462T= (CACNB2)	XP_005252645.1:p.Tyr488=
XM_005252591.2:c.880T= (CACNB2)	XP_005252648.1:p.Tyr294=
XM_006717502.2:c.1540T= (CACNB2)	XP_006717565.1:p.Tyr514=
XM_011519659.1:c.1486T= (CACNB2)	XP_011517961.1:p.Tyr496=
XM_011519660.1:c.1441T= (CACNB2)	XP_011517962.1:p.Tyr481=
NM_001330060.1:c.1441T= (CACNB2)	NP_001316989.1:p.Tyr481=
XM_005252588.4:c.1462T= (CACNB2)	XP_005252645.1:p.Tyr488=
XM_005252591.3:c.880T= (CACNB2)	XP_005252648.1:p.Tyr294=
XM_006717502.3:c.1540T= (CACNB2)	XP_006717565.1:p.Tyr514=
XM_011519659.2:c.1486T= (CACNB2)	XP_011517961.1:p.Tyr496=
XM_017016625.1:c.880T= (CACNB2)	XP_016872114.1:p.Tyr294=
XR_001747060.1:n.2423+2608A= (NSUN6)
XR_001747198.1:n.1845T= (CACNB2)
NM_000724.4:c.1555T= (CACNB2)	NP_000715.2:p.Tyr519=
NM_001167945.2:c.1522T= (CACNB2)	NP_001161417.1:p.Tyr508=
NM_001330060.2:c.1441T= (CACNB2)	NP_001316989.1:p.Tyr481=
NM_201570.3:c.1576T= (CACNB2)	NP_963864.1:p.Tyr526=
NM_201571.4:c.1636T= (CACNB2)	NP_963865.2:p.Tyr546=
NM_201572.4:c.1564T= (CACNB2)	NP_963866.2:p.Tyr522=
NM_201590.3:c.1558T= (CACNB2) MANE Plus Clinical	NP_963884.2:p.Tyr520=
NM_201593.3:c.1606T= (CACNB2)	NP_963887.2:p.Tyr536=
NM_201596.3:c.1720T= (CACNB2) MANE Select	NP_963890.2:p.Tyr574=
NM_201597.3:c.1648T= (CACNB2)	NP_963891.1:p.Tyr550=