Canonical Allele Identifier: CA376072093

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828435A>T (hg19) ; chr10:g.18539506A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539506A>T , CM000672.2:g.18539506A>T	GRCh38
NC_000010.10:g.18828435A>T , CM000672.1:g.18828435A>T	GRCh37
NC_000010.9:g.18868441A>T	NCBI36
NG_016195.1:g.403830A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1621A>T (CACNB2)	ENSP00000366532.4:p.Asn541Tyr
ENST00000377319.9:c.1486A>T (CACNB2)	ENSP00000366536.3:p.Asn496Tyr
ENST00000645287.2:c.1609A>T (CACNB2)	ENSP00000496203.1:p.Asn537Tyr
ENST00000282343.13:c.1681A>T (CACNB2)	ENSP00000282343.8:p.Asn561Tyr
ENST00000324631.13:c.1765A>T (CACNB2) MANE Select	ENSP00000320025.8:p.Asn589Tyr
ENST00000377315.5:c.1621A>T (CACNB2)	ENSP00000366532.4:p.Asn541Tyr
ENST00000377319.8:c.1486A>T (CACNB2)	ENSP00000366536.3:p.Asn496Tyr
ENST00000377329.10:c.1603A>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asn535Tyr
ENST00000377331.8:c.1390A>T (CACNB2)	ENSP00000366548.4:p.Asn464Tyr
ENST00000643096.2:c.1567A>T (CACNB2)	ENSP00000494209.2:p.Asn523Tyr
ENST00000645287.1:c.1609A>T (CACNB2)	ENSP00000496203.1:p.Asn537Tyr
ENST00000647168.2:c.*906A>T (CACNB2)	ENSP00000495854.2:n.*906A>T
ENST00000650685.1:c.1507A>T (CACNB2)	ENSP00000498460.1:p.Asn503Tyr
ENST00000651330.1:c.*1039A>T (CACNB2)	ENSP00000498457.1:n.*1039A>T
ENST00000651468.1:c.1322A>T (CACNB2)	ENSP00000498352.1:n.1322A>T
ENST00000651928.1:c.*1004A>T (CACNB2)	ENSP00000499177.1:n.*1004A>T
ENST00000652391.1:c.1585A>T (CACNB2)	ENSP00000498938.1:p.Asn529Tyr
ENST00000652478.1:c.*865A>T (CACNB2)	ENSP00000498812.1:n.*865A>T
ENST00000282343.12:c.1681A>T (CACNB2)	ENSP00000282343.8:p.Asn561Tyr
ENST00000324631.11:c.1765A>T (CACNB2)	ENSP00000320025.7:p.Asn589Tyr
ENST00000352115.10:c.1693A>T (CACNB2)	ENSP00000344474.6:p.Asn565Tyr
ENST00000377315.4:c.1621A>T (CACNB2)	ENSP00000366532.4:p.Asn541Tyr
ENST00000377319.7:c.1486A>T (CACNB2)	ENSP00000366536.3:p.Asn496Tyr
ENST00000377328.5:c.1015A>T (CACNB2)	ENSP00000366545.1:p.Asn339Tyr
ENST00000377329.8:c.1603A>T (CACNB2)	ENSP00000366546.4:p.Asn535Tyr
ENST00000377331.6:c.1609A>T (CACNB2)	ENSP00000366548.2:p.Asn537Tyr
ENST00000396576.6:c.1600A>T (CACNB2)	ENSP00000379821.2:p.Asn534Tyr
ENST00000612134.4:c.1469A>T (CACNB2)	ENSP00000480563.1:n.1469A>T
ENST00000612743.1:c.277A>T (CACNB2)	ENSP00000478676.1:p.Asn93Tyr
ENST00000615785.4:c.850A>T (CACNB2)	ENSP00000480260.1:p.Asn284Tyr
ENST00000617363.4:c.1528A>T (CACNB2)	ENSP00000479756.1:p.Asn510Tyr
NM_000724.3:c.1600A>T (CACNB2)	NP_000715.2:p.Asn534Tyr
NM_001167945.1:c.1567A>T (CACNB2)	NP_001161417.1:p.Asn523Tyr
NM_201570.2:c.1621A>T (CACNB2)	NP_963864.1:p.Asn541Tyr
NM_201571.3:c.1681A>T (CACNB2)	NP_963865.2:p.Asn561Tyr
NM_201572.3:c.1609A>T (CACNB2)	NP_963866.2:p.Asn537Tyr
NM_201590.2:c.1603A>T (CACNB2)	NP_963884.2:p.Asn535Tyr
NM_201593.2:c.1651A>T (CACNB2)	NP_963887.2:p.Asn551Tyr
NM_201596.2:c.1765A>T (CACNB2)	NP_963890.2:p.Asn589Tyr
NM_201597.2:c.1693A>T (CACNB2)	NP_963891.1:p.Asn565Tyr
XM_005252588.2:c.1507A>T (CACNB2)	XP_005252645.1:p.Asn503Tyr
XM_005252591.2:c.925A>T (CACNB2)	XP_005252648.1:p.Asn309Tyr
XM_006717502.2:c.1585A>T (CACNB2)	XP_006717565.1:p.Asn529Tyr
XM_011519659.1:c.1531A>T (CACNB2)	XP_011517961.1:p.Asn511Tyr
XM_011519660.1:c.1486A>T (CACNB2)	XP_011517962.1:p.Asn496Tyr
NM_001330060.1:c.1486A>T (CACNB2)	NP_001316989.1:p.Asn496Tyr
XM_005252588.4:c.1507A>T (CACNB2)	XP_005252645.1:p.Asn503Tyr
XM_005252591.3:c.925A>T (CACNB2)	XP_005252648.1:p.Asn309Tyr
XM_006717502.3:c.1585A>T (CACNB2)	XP_006717565.1:p.Asn529Tyr
XM_011519659.2:c.1531A>T (CACNB2)	XP_011517961.1:p.Asn511Tyr
XM_017016625.1:c.925A>T (CACNB2)	XP_016872114.1:p.Asn309Tyr
XR_001747060.1:n.2423+2563T>A (NSUN6)
XR_001747198.1:n.1890A>T (CACNB2)
NM_000724.4:c.1600A>T (CACNB2)	NP_000715.2:p.Asn534Tyr
NM_001167945.2:c.1567A>T (CACNB2)	NP_001161417.1:p.Asn523Tyr
NM_001330060.2:c.1486A>T (CACNB2)	NP_001316989.1:p.Asn496Tyr
NM_201570.3:c.1621A>T (CACNB2)	NP_963864.1:p.Asn541Tyr
NM_201571.4:c.1681A>T (CACNB2)	NP_963865.2:p.Asn561Tyr
NM_201572.4:c.1609A>T (CACNB2)	NP_963866.2:p.Asn537Tyr
NM_201590.3:c.1603A>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asn535Tyr
NM_201593.3:c.1651A>T (CACNB2)	NP_963887.2:p.Asn551Tyr
NM_201596.3:c.1765A>T (CACNB2) MANE Select	NP_963890.2:p.Asn589Tyr
NM_201597.3:c.1693A>T (CACNB2)	NP_963891.1:p.Asn565Tyr