Canonical Allele Identifier: CA376072076

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828431C>G (hg19) ; chr10:g.18539502C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539502C>G , CM000672.2:g.18539502C>G	GRCh38
NC_000010.10:g.18828431C>G , CM000672.1:g.18828431C>G	GRCh37
NC_000010.9:g.18868437C>G	NCBI36
NG_016195.1:g.403826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1617C>G (CACNB2)	ENSP00000366532.4:p.Asp539Glu
ENST00000377319.9:c.1482C>G (CACNB2)	ENSP00000366536.3:p.Asp494Glu
ENST00000645287.2:c.1605C>G (CACNB2)	ENSP00000496203.1:p.Asp535Glu
ENST00000282343.13:c.1677C>G (CACNB2)	ENSP00000282343.8:p.Asp559Glu
ENST00000324631.13:c.1761C>G (CACNB2) MANE Select	ENSP00000320025.8:p.Asp587Glu
ENST00000377315.5:c.1617C>G (CACNB2)	ENSP00000366532.4:p.Asp539Glu
ENST00000377319.8:c.1482C>G (CACNB2)	ENSP00000366536.3:p.Asp494Glu
ENST00000377329.10:c.1599C>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp533Glu
ENST00000377331.8:c.1386C>G (CACNB2)	ENSP00000366548.4:p.Asp462Glu
ENST00000643096.2:c.1563C>G (CACNB2)	ENSP00000494209.2:p.Asp521Glu
ENST00000645287.1:c.1605C>G (CACNB2)	ENSP00000496203.1:p.Asp535Glu
ENST00000647168.2:c.*902C>G (CACNB2)	ENSP00000495854.2:n.*902C>G
ENST00000650685.1:c.1503C>G (CACNB2)	ENSP00000498460.1:p.Asp501Glu
ENST00000651330.1:c.*1035C>G (CACNB2)	ENSP00000498457.1:n.*1035C>G
ENST00000651468.1:c.1318C>G (CACNB2)	ENSP00000498352.1:n.1318C>G
ENST00000651928.1:c.*1000C>G (CACNB2)	ENSP00000499177.1:n.*1000C>G
ENST00000652391.1:c.1581C>G (CACNB2)	ENSP00000498938.1:p.Asp527Glu
ENST00000652478.1:c.*861C>G (CACNB2)	ENSP00000498812.1:n.*861C>G
ENST00000282343.12:c.1677C>G (CACNB2)	ENSP00000282343.8:p.Asp559Glu
ENST00000324631.11:c.1761C>G (CACNB2)	ENSP00000320025.7:p.Asp587Glu
ENST00000352115.10:c.1689C>G (CACNB2)	ENSP00000344474.6:p.Asp563Glu
ENST00000377315.4:c.1617C>G (CACNB2)	ENSP00000366532.4:p.Asp539Glu
ENST00000377319.7:c.1482C>G (CACNB2)	ENSP00000366536.3:p.Asp494Glu
ENST00000377328.5:c.1011C>G (CACNB2)	ENSP00000366545.1:p.Asp337Glu
ENST00000377329.8:c.1599C>G (CACNB2)	ENSP00000366546.4:p.Asp533Glu
ENST00000377331.6:c.1605C>G (CACNB2)	ENSP00000366548.2:p.Asp535Glu
ENST00000396576.6:c.1596C>G (CACNB2)	ENSP00000379821.2:p.Asp532Glu
ENST00000612134.4:c.1465C>G (CACNB2)	ENSP00000480563.1:n.1465C>G
ENST00000612743.1:c.273C>G (CACNB2)	ENSP00000478676.1:p.Asp91Glu
ENST00000615785.4:c.846C>G (CACNB2)	ENSP00000480260.1:p.Asp282Glu
ENST00000617363.4:c.1524C>G (CACNB2)	ENSP00000479756.1:p.Asp508Glu
NM_000724.3:c.1596C>G (CACNB2)	NP_000715.2:p.Asp532Glu
NM_001167945.1:c.1563C>G (CACNB2)	NP_001161417.1:p.Asp521Glu
NM_201570.2:c.1617C>G (CACNB2)	NP_963864.1:p.Asp539Glu
NM_201571.3:c.1677C>G (CACNB2)	NP_963865.2:p.Asp559Glu
NM_201572.3:c.1605C>G (CACNB2)	NP_963866.2:p.Asp535Glu
NM_201590.2:c.1599C>G (CACNB2)	NP_963884.2:p.Asp533Glu
NM_201593.2:c.1647C>G (CACNB2)	NP_963887.2:p.Asp549Glu
NM_201596.2:c.1761C>G (CACNB2)	NP_963890.2:p.Asp587Glu
NM_201597.2:c.1689C>G (CACNB2)	NP_963891.1:p.Asp563Glu
XM_005252588.2:c.1503C>G (CACNB2)	XP_005252645.1:p.Asp501Glu
XM_005252591.2:c.921C>G (CACNB2)	XP_005252648.1:p.Asp307Glu
XM_006717502.2:c.1581C>G (CACNB2)	XP_006717565.1:p.Asp527Glu
XM_011519659.1:c.1527C>G (CACNB2)	XP_011517961.1:p.Asp509Glu
XM_011519660.1:c.1482C>G (CACNB2)	XP_011517962.1:p.Asp494Glu
NM_001330060.1:c.1482C>G (CACNB2)	NP_001316989.1:p.Asp494Glu
XM_005252588.4:c.1503C>G (CACNB2)	XP_005252645.1:p.Asp501Glu
XM_005252591.3:c.921C>G (CACNB2)	XP_005252648.1:p.Asp307Glu
XM_006717502.3:c.1581C>G (CACNB2)	XP_006717565.1:p.Asp527Glu
XM_011519659.2:c.1527C>G (CACNB2)	XP_011517961.1:p.Asp509Glu
XM_017016625.1:c.921C>G (CACNB2)	XP_016872114.1:p.Asp307Glu
XR_001747060.1:n.2423+2567G>C (NSUN6)
XR_001747198.1:n.1886C>G (CACNB2)
NM_000724.4:c.1596C>G (CACNB2)	NP_000715.2:p.Asp532Glu
NM_001167945.2:c.1563C>G (CACNB2)	NP_001161417.1:p.Asp521Glu
NM_001330060.2:c.1482C>G (CACNB2)	NP_001316989.1:p.Asp494Glu
NM_201570.3:c.1617C>G (CACNB2)	NP_963864.1:p.Asp539Glu
NM_201571.4:c.1677C>G (CACNB2)	NP_963865.2:p.Asp559Glu
NM_201572.4:c.1605C>G (CACNB2)	NP_963866.2:p.Asp535Glu
NM_201590.3:c.1599C>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp533Glu
NM_201593.3:c.1647C>G (CACNB2)	NP_963887.2:p.Asp549Glu
NM_201596.3:c.1761C>G (CACNB2) MANE Select	NP_963890.2:p.Asp587Glu
NM_201597.3:c.1689C>G (CACNB2)	NP_963891.1:p.Asp563Glu