Canonical Allele Identifier: CA1894173993

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539594A= , CM000672.2:g.18539594A=	GRCh38
NC_000010.10:g.18828523A= , CM000672.1:g.18828523A=	GRCh37
NC_000010.9:g.18868529A=	NCBI36
NG_016195.1:g.403918A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1709A= (CACNB2)	ENSP00000366532.4:p.His570=
ENST00000377319.9:c.1574A= (CACNB2)	ENSP00000366536.3:p.His525=
ENST00000645287.2:c.1697A= (CACNB2)	ENSP00000496203.1:p.His566=
ENST00000282343.13:c.1769A= (CACNB2)	ENSP00000282343.8:p.His590=
ENST00000324631.13:c.1853A= (CACNB2) MANE Select	ENSP00000320025.8:p.His618=
ENST00000377315.5:c.1709A= (CACNB2)	ENSP00000366532.4:p.His570=
ENST00000377319.8:c.1574A= (CACNB2)	ENSP00000366536.3:p.His525=
ENST00000377329.10:c.1691A= (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His564=
ENST00000377331.8:c.1478A= (CACNB2)	ENSP00000366548.4:p.His493=
ENST00000643096.2:c.1655A= (CACNB2)	ENSP00000494209.2:p.His552=
ENST00000645287.1:c.1697A= (CACNB2)	ENSP00000496203.1:p.His566=
ENST00000647168.2:c.*994A= (CACNB2)	ENSP00000495854.2:n.*994A=
ENST00000650685.1:c.1595A= (CACNB2)	ENSP00000498460.1:p.His532=
ENST00000651330.1:c.*1127A= (CACNB2)	ENSP00000498457.1:n.*1127A=
ENST00000651468.1:c.1410A= (CACNB2)	ENSP00000498352.1:n.1410A=
ENST00000651928.1:c.*1092A= (CACNB2)	ENSP00000499177.1:n.*1092A=
ENST00000652391.1:c.1673A= (CACNB2)	ENSP00000498938.1:p.His558=
ENST00000652478.1:c.*953A= (CACNB2)	ENSP00000498812.1:n.*953A=
ENST00000282343.12:c.1769A= (CACNB2)	ENSP00000282343.8:p.His590=
ENST00000324631.11:c.1853A= (CACNB2)	ENSP00000320025.7:p.His618=
ENST00000352115.10:c.1781A= (CACNB2)	ENSP00000344474.6:p.His594=
ENST00000377315.4:c.1709A= (CACNB2)	ENSP00000366532.4:p.His570=
ENST00000377319.7:c.1574A= (CACNB2)	ENSP00000366536.3:p.His525=
ENST00000377328.5:c.1103A= (CACNB2)	ENSP00000366545.1:p.His368=
ENST00000377329.8:c.1691A= (CACNB2)	ENSP00000366546.4:p.His564=
ENST00000377331.6:c.1697A= (CACNB2)	ENSP00000366548.2:p.His566=
ENST00000396576.6:c.1688A= (CACNB2)	ENSP00000379821.2:p.His563=
ENST00000612134.4:c.1557A= (CACNB2)	ENSP00000480563.1:n.1557A=
ENST00000612743.1:c.365A= (CACNB2)	ENSP00000478676.1:p.His122=
ENST00000615785.4:c.938A= (CACNB2)	ENSP00000480260.1:p.His313=
ENST00000617363.4:c.1616A= (CACNB2)	ENSP00000479756.1:p.His539=
NM_000724.3:c.1688A= (CACNB2)	NP_000715.2:p.His563=
NM_001167945.1:c.1655A= (CACNB2)	NP_001161417.1:p.His552=
NM_201570.2:c.1709A= (CACNB2)	NP_963864.1:p.His570=
NM_201571.3:c.1769A= (CACNB2)	NP_963865.2:p.His590=
NM_201572.3:c.1697A= (CACNB2)	NP_963866.2:p.His566=
NM_201590.2:c.1691A= (CACNB2)	NP_963884.2:p.His564=
NM_201593.2:c.1739A= (CACNB2)	NP_963887.2:p.His580=
NM_201596.2:c.1853A= (CACNB2)	NP_963890.2:p.His618=
NM_201597.2:c.1781A= (CACNB2)	NP_963891.1:p.His594=
XM_005252588.2:c.1595A= (CACNB2)	XP_005252645.1:p.His532=
XM_005252591.2:c.1013A= (CACNB2)	XP_005252648.1:p.His338=
XM_006717502.2:c.1673A= (CACNB2)	XP_006717565.1:p.His558=
XM_011519659.1:c.1619A= (CACNB2)	XP_011517961.1:p.His540=
XM_011519660.1:c.1574A= (CACNB2)	XP_011517962.1:p.His525=
NM_001330060.1:c.1574A= (CACNB2)	NP_001316989.1:p.His525=
XM_005252588.4:c.1595A= (CACNB2)	XP_005252645.1:p.His532=
XM_005252591.3:c.1013A= (CACNB2)	XP_005252648.1:p.His338=
XM_006717502.3:c.1673A= (CACNB2)	XP_006717565.1:p.His558=
XM_011519659.2:c.1619A= (CACNB2)	XP_011517961.1:p.His540=
XM_017016625.1:c.1013A= (CACNB2)	XP_016872114.1:p.His338=
XR_001747060.1:n.2423+2475T= (NSUN6)
XR_001747198.1:n.1978A= (CACNB2)
NM_000724.4:c.1688A= (CACNB2)	NP_000715.2:p.His563=
NM_001167945.2:c.1655A= (CACNB2)	NP_001161417.1:p.His552=
NM_001330060.2:c.1574A= (CACNB2)	NP_001316989.1:p.His525=
NM_201570.3:c.1709A= (CACNB2)	NP_963864.1:p.His570=
NM_201571.4:c.1769A= (CACNB2)	NP_963865.2:p.His590=
NM_201572.4:c.1697A= (CACNB2)	NP_963866.2:p.His566=
NM_201590.3:c.1691A= (CACNB2) MANE Plus Clinical	NP_963884.2:p.His564=
NM_201593.3:c.1739A= (CACNB2)	NP_963887.2:p.His580=
NM_201596.3:c.1853A= (CACNB2) MANE Select	NP_963890.2:p.His618=
NM_201597.3:c.1781A= (CACNB2)	NP_963891.1:p.His594=