Canonical Allele Identifier: CA376072585

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828517A>T (hg19) ; chr10:g.18539588A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539588A>T , CM000672.2:g.18539588A>T	GRCh38
NC_000010.10:g.18828517A>T , CM000672.1:g.18828517A>T	GRCh37
NC_000010.9:g.18868523A>T	NCBI36
NG_016195.1:g.403912A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1703A>T (CACNB2)	ENSP00000366532.4:p.Gln568Leu
ENST00000377319.9:c.1568A>T (CACNB2)	ENSP00000366536.3:p.Gln523Leu
ENST00000645287.2:c.1691A>T (CACNB2)	ENSP00000496203.1:p.Gln564Leu
ENST00000282343.13:c.1763A>T (CACNB2)	ENSP00000282343.8:p.Gln588Leu
ENST00000324631.13:c.1847A>T (CACNB2) MANE Select	ENSP00000320025.8:p.Gln616Leu
ENST00000377315.5:c.1703A>T (CACNB2)	ENSP00000366532.4:p.Gln568Leu
ENST00000377319.8:c.1568A>T (CACNB2)	ENSP00000366536.3:p.Gln523Leu
ENST00000377329.10:c.1685A>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Gln562Leu
ENST00000377331.8:c.1472A>T (CACNB2)	ENSP00000366548.4:p.Gln491Leu
ENST00000643096.2:c.1649A>T (CACNB2)	ENSP00000494209.2:p.Gln550Leu
ENST00000645287.1:c.1691A>T (CACNB2)	ENSP00000496203.1:p.Gln564Leu
ENST00000647168.2:c.*988A>T (CACNB2)	ENSP00000495854.2:n.*988A>T
ENST00000650685.1:c.1589A>T (CACNB2)	ENSP00000498460.1:p.Gln530Leu
ENST00000651330.1:c.*1121A>T (CACNB2)	ENSP00000498457.1:n.*1121A>T
ENST00000651468.1:c.1404A>T (CACNB2)	ENSP00000498352.1:n.1404A>T
ENST00000651928.1:c.*1086A>T (CACNB2)	ENSP00000499177.1:n.*1086A>T
ENST00000652391.1:c.1667A>T (CACNB2)	ENSP00000498938.1:p.Gln556Leu
ENST00000652478.1:c.*947A>T (CACNB2)	ENSP00000498812.1:n.*947A>T
ENST00000282343.12:c.1763A>T (CACNB2)	ENSP00000282343.8:p.Gln588Leu
ENST00000324631.11:c.1847A>T (CACNB2)	ENSP00000320025.7:p.Gln616Leu
ENST00000352115.10:c.1775A>T (CACNB2)	ENSP00000344474.6:p.Gln592Leu
ENST00000377315.4:c.1703A>T (CACNB2)	ENSP00000366532.4:p.Gln568Leu
ENST00000377319.7:c.1568A>T (CACNB2)	ENSP00000366536.3:p.Gln523Leu
ENST00000377328.5:c.1097A>T (CACNB2)	ENSP00000366545.1:p.Gln366Leu
ENST00000377329.8:c.1685A>T (CACNB2)	ENSP00000366546.4:p.Gln562Leu
ENST00000377331.6:c.1691A>T (CACNB2)	ENSP00000366548.2:p.Gln564Leu
ENST00000396576.6:c.1682A>T (CACNB2)	ENSP00000379821.2:p.Gln561Leu
ENST00000612134.4:c.1551A>T (CACNB2)	ENSP00000480563.1:n.1551A>T
ENST00000612743.1:c.359A>T (CACNB2)	ENSP00000478676.1:p.Gln120Leu
ENST00000615785.4:c.932A>T (CACNB2)	ENSP00000480260.1:p.Gln311Leu
ENST00000617363.4:c.1610A>T (CACNB2)	ENSP00000479756.1:p.Gln537Leu
NM_000724.3:c.1682A>T (CACNB2)	NP_000715.2:p.Gln561Leu
NM_001167945.1:c.1649A>T (CACNB2)	NP_001161417.1:p.Gln550Leu
NM_201570.2:c.1703A>T (CACNB2)	NP_963864.1:p.Gln568Leu
NM_201571.3:c.1763A>T (CACNB2)	NP_963865.2:p.Gln588Leu
NM_201572.3:c.1691A>T (CACNB2)	NP_963866.2:p.Gln564Leu
NM_201590.2:c.1685A>T (CACNB2)	NP_963884.2:p.Gln562Leu
NM_201593.2:c.1733A>T (CACNB2)	NP_963887.2:p.Gln578Leu
NM_201596.2:c.1847A>T (CACNB2)	NP_963890.2:p.Gln616Leu
NM_201597.2:c.1775A>T (CACNB2)	NP_963891.1:p.Gln592Leu
XM_005252588.2:c.1589A>T (CACNB2)	XP_005252645.1:p.Gln530Leu
XM_005252591.2:c.1007A>T (CACNB2)	XP_005252648.1:p.Gln336Leu
XM_006717502.2:c.1667A>T (CACNB2)	XP_006717565.1:p.Gln556Leu
XM_011519659.1:c.1613A>T (CACNB2)	XP_011517961.1:p.Gln538Leu
XM_011519660.1:c.1568A>T (CACNB2)	XP_011517962.1:p.Gln523Leu
NM_001330060.1:c.1568A>T (CACNB2)	NP_001316989.1:p.Gln523Leu
XM_005252588.4:c.1589A>T (CACNB2)	XP_005252645.1:p.Gln530Leu
XM_005252591.3:c.1007A>T (CACNB2)	XP_005252648.1:p.Gln336Leu
XM_006717502.3:c.1667A>T (CACNB2)	XP_006717565.1:p.Gln556Leu
XM_011519659.2:c.1613A>T (CACNB2)	XP_011517961.1:p.Gln538Leu
XM_017016625.1:c.1007A>T (CACNB2)	XP_016872114.1:p.Gln336Leu
XR_001747060.1:n.2423+2481T>A (NSUN6)
XR_001747198.1:n.1972A>T (CACNB2)
NM_000724.4:c.1682A>T (CACNB2)	NP_000715.2:p.Gln561Leu
NM_001167945.2:c.1649A>T (CACNB2)	NP_001161417.1:p.Gln550Leu
NM_001330060.2:c.1568A>T (CACNB2)	NP_001316989.1:p.Gln523Leu
NM_201570.3:c.1703A>T (CACNB2)	NP_963864.1:p.Gln568Leu
NM_201571.4:c.1763A>T (CACNB2)	NP_963865.2:p.Gln588Leu
NM_201572.4:c.1691A>T (CACNB2)	NP_963866.2:p.Gln564Leu
NM_201590.3:c.1685A>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Gln562Leu
NM_201593.3:c.1733A>T (CACNB2)	NP_963887.2:p.Gln578Leu
NM_201596.3:c.1847A>T (CACNB2) MANE Select	NP_963890.2:p.Gln616Leu
NM_201597.3:c.1775A>T (CACNB2)	NP_963891.1:p.Gln592Leu