Canonical Allele Identifier: CA376071716

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828346C>T (hg19) ; chr10:g.18539417C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539417C>T , CM000672.2:g.18539417C>T	GRCh38
NC_000010.10:g.18828346C>T , CM000672.1:g.18828346C>T	GRCh37
NC_000010.9:g.18868352C>T	NCBI36
NG_016195.1:g.403741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1532C>T (CACNB2)	ENSP00000366532.4:p.Thr511Ile
ENST00000377319.9:c.1397C>T (CACNB2)	ENSP00000366536.3:p.Thr466Ile
ENST00000645287.2:c.1520C>T (CACNB2)	ENSP00000496203.1:p.Thr507Ile
ENST00000282343.13:c.1592C>T (CACNB2)	ENSP00000282343.8:p.Thr531Ile
ENST00000324631.13:c.1676C>T (CACNB2) MANE Select	ENSP00000320025.8:p.Thr559Ile
ENST00000377315.5:c.1532C>T (CACNB2)	ENSP00000366532.4:p.Thr511Ile
ENST00000377319.8:c.1397C>T (CACNB2)	ENSP00000366536.3:p.Thr466Ile
ENST00000377329.10:c.1514C>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Thr505Ile
ENST00000377331.8:c.1301C>T (CACNB2)	ENSP00000366548.4:p.Thr434Ile
ENST00000643096.2:c.1478C>T (CACNB2)	ENSP00000494209.2:p.Thr493Ile
ENST00000645287.1:c.1520C>T (CACNB2)	ENSP00000496203.1:p.Thr507Ile
ENST00000647168.2:c.*817C>T (CACNB2)	ENSP00000495854.2:n.*817C>T
ENST00000650685.1:c.1418C>T (CACNB2)	ENSP00000498460.1:p.Thr473Ile
ENST00000651330.1:c.*950C>T (CACNB2)	ENSP00000498457.1:n.*950C>T
ENST00000651468.1:c.1233C>T (CACNB2)	ENSP00000498352.1:n.1233C>T
ENST00000651928.1:c.*915C>T (CACNB2)	ENSP00000499177.1:n.*915C>T
ENST00000652391.1:c.1496C>T (CACNB2)	ENSP00000498938.1:p.Thr499Ile
ENST00000652478.1:c.*776C>T (CACNB2)	ENSP00000498812.1:n.*776C>T
ENST00000282343.12:c.1592C>T (CACNB2)	ENSP00000282343.8:p.Thr531Ile
ENST00000324631.11:c.1676C>T (CACNB2)	ENSP00000320025.7:p.Thr559Ile
ENST00000352115.10:c.1604C>T (CACNB2)	ENSP00000344474.6:p.Thr535Ile
ENST00000377315.4:c.1532C>T (CACNB2)	ENSP00000366532.4:p.Thr511Ile
ENST00000377319.7:c.1397C>T (CACNB2)	ENSP00000366536.3:p.Thr466Ile
ENST00000377328.5:c.926C>T (CACNB2)	ENSP00000366545.1:p.Thr309Ile
ENST00000377329.8:c.1514C>T (CACNB2)	ENSP00000366546.4:p.Thr505Ile
ENST00000377331.6:c.1520C>T (CACNB2)	ENSP00000366548.2:p.Thr507Ile
ENST00000396576.6:c.1511C>T (CACNB2)	ENSP00000379821.2:p.Thr504Ile
ENST00000612134.4:c.1380C>T (CACNB2)	ENSP00000480563.1:n.1380C>T
ENST00000612743.1:c.188C>T (CACNB2)	ENSP00000478676.1:p.Thr63Ile
ENST00000615785.4:c.761C>T (CACNB2)	ENSP00000480260.1:p.Thr254Ile
ENST00000617363.4:c.1439C>T (CACNB2)	ENSP00000479756.1:p.Thr480Ile
NM_000724.3:c.1511C>T (CACNB2)	NP_000715.2:p.Thr504Ile
NM_001167945.1:c.1478C>T (CACNB2)	NP_001161417.1:p.Thr493Ile
NM_201570.2:c.1532C>T (CACNB2)	NP_963864.1:p.Thr511Ile
NM_201571.3:c.1592C>T (CACNB2)	NP_963865.2:p.Thr531Ile
NM_201572.3:c.1520C>T (CACNB2)	NP_963866.2:p.Thr507Ile
NM_201590.2:c.1514C>T (CACNB2)	NP_963884.2:p.Thr505Ile
NM_201593.2:c.1562C>T (CACNB2)	NP_963887.2:p.Thr521Ile
NM_201596.2:c.1676C>T (CACNB2)	NP_963890.2:p.Thr559Ile
NM_201597.2:c.1604C>T (CACNB2)	NP_963891.1:p.Thr535Ile
XM_005252588.2:c.1418C>T (CACNB2)	XP_005252645.1:p.Thr473Ile
XM_005252591.2:c.836C>T (CACNB2)	XP_005252648.1:p.Thr279Ile
XM_006717502.2:c.1496C>T (CACNB2)	XP_006717565.1:p.Thr499Ile
XM_011519659.1:c.1442C>T (CACNB2)	XP_011517961.1:p.Thr481Ile
XM_011519660.1:c.1397C>T (CACNB2)	XP_011517962.1:p.Thr466Ile
NM_001330060.1:c.1397C>T (CACNB2)	NP_001316989.1:p.Thr466Ile
XM_005252588.4:c.1418C>T (CACNB2)	XP_005252645.1:p.Thr473Ile
XM_005252591.3:c.836C>T (CACNB2)	XP_005252648.1:p.Thr279Ile
XM_006717502.3:c.1496C>T (CACNB2)	XP_006717565.1:p.Thr499Ile
XM_011519659.2:c.1442C>T (CACNB2)	XP_011517961.1:p.Thr481Ile
XM_017016625.1:c.836C>T (CACNB2)	XP_016872114.1:p.Thr279Ile
XR_001747060.1:n.2423+2652G>A (NSUN6)
XR_001747198.1:n.1801C>T (CACNB2)
NM_000724.4:c.1511C>T (CACNB2)	NP_000715.2:p.Thr504Ile
NM_001167945.2:c.1478C>T (CACNB2)	NP_001161417.1:p.Thr493Ile
NM_001330060.2:c.1397C>T (CACNB2)	NP_001316989.1:p.Thr466Ile
NM_201570.3:c.1532C>T (CACNB2)	NP_963864.1:p.Thr511Ile
NM_201571.4:c.1592C>T (CACNB2)	NP_963865.2:p.Thr531Ile
NM_201572.4:c.1520C>T (CACNB2)	NP_963866.2:p.Thr507Ile
NM_201590.3:c.1514C>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Thr505Ile
NM_201593.3:c.1562C>T (CACNB2)	NP_963887.2:p.Thr521Ile
NM_201596.3:c.1676C>T (CACNB2) MANE Select	NP_963890.2:p.Thr559Ile
NM_201597.3:c.1604C>T (CACNB2)	NP_963891.1:p.Thr535Ile