Canonical Allele Identifier: CA376072069

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828430A>C (hg19) ; chr10:g.18539501A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539501A>C , CM000672.2:g.18539501A>C	GRCh38
NC_000010.10:g.18828430A>C , CM000672.1:g.18828430A>C	GRCh37
NC_000010.9:g.18868436A>C	NCBI36
NG_016195.1:g.403825A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1616A>C (CACNB2)	ENSP00000366532.4:p.Asp539Ala
ENST00000377319.9:c.1481A>C (CACNB2)	ENSP00000366536.3:p.Asp494Ala
ENST00000645287.2:c.1604A>C (CACNB2)	ENSP00000496203.1:p.Asp535Ala
ENST00000282343.13:c.1676A>C (CACNB2)	ENSP00000282343.8:p.Asp559Ala
ENST00000324631.13:c.1760A>C (CACNB2) MANE Select	ENSP00000320025.8:p.Asp587Ala
ENST00000377315.5:c.1616A>C (CACNB2)	ENSP00000366532.4:p.Asp539Ala
ENST00000377319.8:c.1481A>C (CACNB2)	ENSP00000366536.3:p.Asp494Ala
ENST00000377329.10:c.1598A>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp533Ala
ENST00000377331.8:c.1385A>C (CACNB2)	ENSP00000366548.4:p.Asp462Ala
ENST00000643096.2:c.1562A>C (CACNB2)	ENSP00000494209.2:p.Asp521Ala
ENST00000645287.1:c.1604A>C (CACNB2)	ENSP00000496203.1:p.Asp535Ala
ENST00000647168.2:c.*901A>C (CACNB2)	ENSP00000495854.2:n.*901A>C
ENST00000650685.1:c.1502A>C (CACNB2)	ENSP00000498460.1:p.Asp501Ala
ENST00000651330.1:c.*1034A>C (CACNB2)	ENSP00000498457.1:n.*1034A>C
ENST00000651468.1:c.1317A>C (CACNB2)	ENSP00000498352.1:n.1317A>C
ENST00000651928.1:c.*999A>C (CACNB2)	ENSP00000499177.1:n.*999A>C
ENST00000652391.1:c.1580A>C (CACNB2)	ENSP00000498938.1:p.Asp527Ala
ENST00000652478.1:c.*860A>C (CACNB2)	ENSP00000498812.1:n.*860A>C
ENST00000282343.12:c.1676A>C (CACNB2)	ENSP00000282343.8:p.Asp559Ala
ENST00000324631.11:c.1760A>C (CACNB2)	ENSP00000320025.7:p.Asp587Ala
ENST00000352115.10:c.1688A>C (CACNB2)	ENSP00000344474.6:p.Asp563Ala
ENST00000377315.4:c.1616A>C (CACNB2)	ENSP00000366532.4:p.Asp539Ala
ENST00000377319.7:c.1481A>C (CACNB2)	ENSP00000366536.3:p.Asp494Ala
ENST00000377328.5:c.1010A>C (CACNB2)	ENSP00000366545.1:p.Asp337Ala
ENST00000377329.8:c.1598A>C (CACNB2)	ENSP00000366546.4:p.Asp533Ala
ENST00000377331.6:c.1604A>C (CACNB2)	ENSP00000366548.2:p.Asp535Ala
ENST00000396576.6:c.1595A>C (CACNB2)	ENSP00000379821.2:p.Asp532Ala
ENST00000612134.4:c.1464A>C (CACNB2)	ENSP00000480563.1:n.1464A>C
ENST00000612743.1:c.272A>C (CACNB2)	ENSP00000478676.1:p.Asp91Ala
ENST00000615785.4:c.845A>C (CACNB2)	ENSP00000480260.1:p.Asp282Ala
ENST00000617363.4:c.1523A>C (CACNB2)	ENSP00000479756.1:p.Asp508Ala
NM_000724.3:c.1595A>C (CACNB2)	NP_000715.2:p.Asp532Ala
NM_001167945.1:c.1562A>C (CACNB2)	NP_001161417.1:p.Asp521Ala
NM_201570.2:c.1616A>C (CACNB2)	NP_963864.1:p.Asp539Ala
NM_201571.3:c.1676A>C (CACNB2)	NP_963865.2:p.Asp559Ala
NM_201572.3:c.1604A>C (CACNB2)	NP_963866.2:p.Asp535Ala
NM_201590.2:c.1598A>C (CACNB2)	NP_963884.2:p.Asp533Ala
NM_201593.2:c.1646A>C (CACNB2)	NP_963887.2:p.Asp549Ala
NM_201596.2:c.1760A>C (CACNB2)	NP_963890.2:p.Asp587Ala
NM_201597.2:c.1688A>C (CACNB2)	NP_963891.1:p.Asp563Ala
XM_005252588.2:c.1502A>C (CACNB2)	XP_005252645.1:p.Asp501Ala
XM_005252591.2:c.920A>C (CACNB2)	XP_005252648.1:p.Asp307Ala
XM_006717502.2:c.1580A>C (CACNB2)	XP_006717565.1:p.Asp527Ala
XM_011519659.1:c.1526A>C (CACNB2)	XP_011517961.1:p.Asp509Ala
XM_011519660.1:c.1481A>C (CACNB2)	XP_011517962.1:p.Asp494Ala
NM_001330060.1:c.1481A>C (CACNB2)	NP_001316989.1:p.Asp494Ala
XM_005252588.4:c.1502A>C (CACNB2)	XP_005252645.1:p.Asp501Ala
XM_005252591.3:c.920A>C (CACNB2)	XP_005252648.1:p.Asp307Ala
XM_006717502.3:c.1580A>C (CACNB2)	XP_006717565.1:p.Asp527Ala
XM_011519659.2:c.1526A>C (CACNB2)	XP_011517961.1:p.Asp509Ala
XM_017016625.1:c.920A>C (CACNB2)	XP_016872114.1:p.Asp307Ala
XR_001747060.1:n.2423+2568T>G (NSUN6)
XR_001747198.1:n.1885A>C (CACNB2)
NM_000724.4:c.1595A>C (CACNB2)	NP_000715.2:p.Asp532Ala
NM_001167945.2:c.1562A>C (CACNB2)	NP_001161417.1:p.Asp521Ala
NM_001330060.2:c.1481A>C (CACNB2)	NP_001316989.1:p.Asp494Ala
NM_201570.3:c.1616A>C (CACNB2)	NP_963864.1:p.Asp539Ala
NM_201571.4:c.1676A>C (CACNB2)	NP_963865.2:p.Asp559Ala
NM_201572.4:c.1604A>C (CACNB2)	NP_963866.2:p.Asp535Ala
NM_201590.3:c.1598A>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp533Ala
NM_201593.3:c.1646A>C (CACNB2)	NP_963887.2:p.Asp549Ala
NM_201596.3:c.1760A>C (CACNB2) MANE Select	NP_963890.2:p.Asp587Ala
NM_201597.3:c.1688A>C (CACNB2)	NP_963891.1:p.Asp563Ala