Canonical Allele Identifier: CA468627698

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539349-C-G
• MyVariant Identifiers: chr10:g.18828278C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539349C>G , CM000672.2:g.18539349C>G	GRCh38
NC_000010.10:g.18828278C>G , CM000672.1:g.18828278C>G	GRCh37
NC_000010.9:g.18868284C>G	NCBI36
NG_016195.1:g.403673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1464C>G (CACNB2)	ENSP00000366532.4:p.Ala488=
ENST00000377319.9:c.1329C>G (CACNB2)	ENSP00000366536.3:p.Ala443=
ENST00000645287.2:c.1452C>G (CACNB2)	ENSP00000496203.1:p.Ala484=
ENST00000282343.13:c.1524C>G (CACNB2)	ENSP00000282343.8:p.Ala508=
ENST00000324631.13:c.1608C>G (CACNB2) MANE Select	ENSP00000320025.8:p.Ala536=
ENST00000377315.5:c.1464C>G (CACNB2)	ENSP00000366532.4:p.Ala488=
ENST00000377319.8:c.1329C>G (CACNB2)	ENSP00000366536.3:p.Ala443=
ENST00000377329.10:c.1446C>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Ala482=
ENST00000377331.8:c.1233C>G (CACNB2)	ENSP00000366548.4:p.Ala411=
ENST00000643096.2:c.1410C>G (CACNB2)	ENSP00000494209.2:p.Ala470=
ENST00000645287.1:c.1452C>G (CACNB2)	ENSP00000496203.1:p.Ala484=
ENST00000647168.2:c.*749C>G (CACNB2)	ENSP00000495854.2:n.*749C>G
ENST00000650685.1:c.1350C>G (CACNB2)	ENSP00000498460.1:p.Ala450=
ENST00000651330.1:c.*882C>G (CACNB2)	ENSP00000498457.1:n.*882C>G
ENST00000651468.1:c.1165C>G (CACNB2)	ENSP00000498352.1:n.1165C>G
ENST00000651928.1:c.*847C>G (CACNB2)	ENSP00000499177.1:n.*847C>G
ENST00000652391.1:c.1428C>G (CACNB2)	ENSP00000498938.1:p.Ala476=
ENST00000652478.1:c.*708C>G (CACNB2)	ENSP00000498812.1:n.*708C>G
ENST00000282343.12:c.1524C>G (CACNB2)	ENSP00000282343.8:p.Ala508=
ENST00000324631.11:c.1608C>G (CACNB2)	ENSP00000320025.7:p.Ala536=
ENST00000352115.10:c.1536C>G (CACNB2)	ENSP00000344474.6:p.Ala512=
ENST00000377315.4:c.1464C>G (CACNB2)	ENSP00000366532.4:p.Ala488=
ENST00000377319.7:c.1329C>G (CACNB2)	ENSP00000366536.3:p.Ala443=
ENST00000377328.5:c.858C>G (CACNB2)	ENSP00000366545.1:p.Ala286=
ENST00000377329.8:c.1446C>G (CACNB2)	ENSP00000366546.4:p.Ala482=
ENST00000377331.6:c.1452C>G (CACNB2)	ENSP00000366548.2:p.Ala484=
ENST00000396576.6:c.1443C>G (CACNB2)	ENSP00000379821.2:p.Ala481=
ENST00000612134.4:c.1312C>G (CACNB2)	ENSP00000480563.1:n.1312C>G
ENST00000612743.1:c.120C>G (CACNB2)	ENSP00000478676.1:p.Ala40=
ENST00000615785.4:c.693C>G (CACNB2)	ENSP00000480260.1:p.Ala231=
ENST00000617363.4:c.1371C>G (CACNB2)	ENSP00000479756.1:p.Ala457=
NM_000724.3:c.1443C>G (CACNB2)	NP_000715.2:p.Ala481=
NM_001167945.1:c.1410C>G (CACNB2)	NP_001161417.1:p.Ala470=
NM_201570.2:c.1464C>G (CACNB2)	NP_963864.1:p.Ala488=
NM_201571.3:c.1524C>G (CACNB2)	NP_963865.2:p.Ala508=
NM_201572.3:c.1452C>G (CACNB2)	NP_963866.2:p.Ala484=
NM_201590.2:c.1446C>G (CACNB2)	NP_963884.2:p.Ala482=
NM_201593.2:c.1494C>G (CACNB2)	NP_963887.2:p.Ala498=
NM_201596.2:c.1608C>G (CACNB2)	NP_963890.2:p.Ala536=
NM_201597.2:c.1536C>G (CACNB2)	NP_963891.1:p.Ala512=
XM_005252588.2:c.1350C>G (CACNB2)	XP_005252645.1:p.Ala450=
XM_005252591.2:c.768C>G (CACNB2)	XP_005252648.1:p.Ala256=
XM_006717502.2:c.1428C>G (CACNB2)	XP_006717565.1:p.Ala476=
XM_011519659.1:c.1374C>G (CACNB2)	XP_011517961.1:p.Ala458=
XM_011519660.1:c.1329C>G (CACNB2)	XP_011517962.1:p.Ala443=
NM_001330060.1:c.1329C>G (CACNB2)	NP_001316989.1:p.Ala443=
XM_005252588.4:c.1350C>G (CACNB2)	XP_005252645.1:p.Ala450=
XM_005252591.3:c.768C>G (CACNB2)	XP_005252648.1:p.Ala256=
XM_006717502.3:c.1428C>G (CACNB2)	XP_006717565.1:p.Ala476=
XM_011519659.2:c.1374C>G (CACNB2)	XP_011517961.1:p.Ala458=
XM_017016625.1:c.768C>G (CACNB2)	XP_016872114.1:p.Ala256=
XR_001747060.1:n.2423+2720G>C (NSUN6)
XR_001747198.1:n.1733C>G (CACNB2)
NM_000724.4:c.1443C>G (CACNB2)	NP_000715.2:p.Ala481=
NM_001167945.2:c.1410C>G (CACNB2)	NP_001161417.1:p.Ala470=
NM_001330060.2:c.1329C>G (CACNB2)	NP_001316989.1:p.Ala443=
NM_201570.3:c.1464C>G (CACNB2)	NP_963864.1:p.Ala488=
NM_201571.4:c.1524C>G (CACNB2)	NP_963865.2:p.Ala508=
NM_201572.4:c.1452C>G (CACNB2)	NP_963866.2:p.Ala484=
NM_201590.3:c.1446C>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Ala482=
NM_201593.3:c.1494C>G (CACNB2)	NP_963887.2:p.Ala498=
NM_201596.3:c.1608C>G (CACNB2) MANE Select	NP_963890.2:p.Ala536=
NM_201597.3:c.1536C>G (CACNB2)	NP_963891.1:p.Ala512=