Canonical Allele Identifier: CA376071823

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828373T>C (hg19) ; chr10:g.18539444T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539444T>C , CM000672.2:g.18539444T>C	GRCh38
NC_000010.10:g.18828373T>C , CM000672.1:g.18828373T>C	GRCh37
NC_000010.9:g.18868379T>C	NCBI36
NG_016195.1:g.403768T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1559T>C (CACNB2)	ENSP00000366532.4:p.Val520Ala
ENST00000377319.9:c.1424T>C (CACNB2)	ENSP00000366536.3:p.Val475Ala
ENST00000645287.2:c.1547T>C (CACNB2)	ENSP00000496203.1:p.Val516Ala
ENST00000282343.13:c.1619T>C (CACNB2)	ENSP00000282343.8:p.Val540Ala
ENST00000324631.13:c.1703T>C (CACNB2) MANE Select	ENSP00000320025.8:p.Val568Ala
ENST00000377315.5:c.1559T>C (CACNB2)	ENSP00000366532.4:p.Val520Ala
ENST00000377319.8:c.1424T>C (CACNB2)	ENSP00000366536.3:p.Val475Ala
ENST00000377329.10:c.1541T>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Val514Ala
ENST00000377331.8:c.1328T>C (CACNB2)	ENSP00000366548.4:p.Val443Ala
ENST00000643096.2:c.1505T>C (CACNB2)	ENSP00000494209.2:p.Val502Ala
ENST00000645287.1:c.1547T>C (CACNB2)	ENSP00000496203.1:p.Val516Ala
ENST00000647168.2:c.*844T>C (CACNB2)	ENSP00000495854.2:n.*844T>C
ENST00000650685.1:c.1445T>C (CACNB2)	ENSP00000498460.1:p.Val482Ala
ENST00000651330.1:c.*977T>C (CACNB2)	ENSP00000498457.1:n.*977T>C
ENST00000651468.1:c.1260T>C (CACNB2)	ENSP00000498352.1:n.1260T>C
ENST00000651928.1:c.*942T>C (CACNB2)	ENSP00000499177.1:n.*942T>C
ENST00000652391.1:c.1523T>C (CACNB2)	ENSP00000498938.1:p.Val508Ala
ENST00000652478.1:c.*803T>C (CACNB2)	ENSP00000498812.1:n.*803T>C
ENST00000282343.12:c.1619T>C (CACNB2)	ENSP00000282343.8:p.Val540Ala
ENST00000324631.11:c.1703T>C (CACNB2)	ENSP00000320025.7:p.Val568Ala
ENST00000352115.10:c.1631T>C (CACNB2)	ENSP00000344474.6:p.Val544Ala
ENST00000377315.4:c.1559T>C (CACNB2)	ENSP00000366532.4:p.Val520Ala
ENST00000377319.7:c.1424T>C (CACNB2)	ENSP00000366536.3:p.Val475Ala
ENST00000377328.5:c.953T>C (CACNB2)	ENSP00000366545.1:p.Val318Ala
ENST00000377329.8:c.1541T>C (CACNB2)	ENSP00000366546.4:p.Val514Ala
ENST00000377331.6:c.1547T>C (CACNB2)	ENSP00000366548.2:p.Val516Ala
ENST00000396576.6:c.1538T>C (CACNB2)	ENSP00000379821.2:p.Val513Ala
ENST00000612134.4:c.1407T>C (CACNB2)	ENSP00000480563.1:n.1407T>C
ENST00000612743.1:c.215T>C (CACNB2)	ENSP00000478676.1:p.Val72Ala
ENST00000615785.4:c.788T>C (CACNB2)	ENSP00000480260.1:p.Val263Ala
ENST00000617363.4:c.1466T>C (CACNB2)	ENSP00000479756.1:p.Val489Ala
NM_000724.3:c.1538T>C (CACNB2)	NP_000715.2:p.Val513Ala
NM_001167945.1:c.1505T>C (CACNB2)	NP_001161417.1:p.Val502Ala
NM_201570.2:c.1559T>C (CACNB2)	NP_963864.1:p.Val520Ala
NM_201571.3:c.1619T>C (CACNB2)	NP_963865.2:p.Val540Ala
NM_201572.3:c.1547T>C (CACNB2)	NP_963866.2:p.Val516Ala
NM_201590.2:c.1541T>C (CACNB2)	NP_963884.2:p.Val514Ala
NM_201593.2:c.1589T>C (CACNB2)	NP_963887.2:p.Val530Ala
NM_201596.2:c.1703T>C (CACNB2)	NP_963890.2:p.Val568Ala
NM_201597.2:c.1631T>C (CACNB2)	NP_963891.1:p.Val544Ala
XM_005252588.2:c.1445T>C (CACNB2)	XP_005252645.1:p.Val482Ala
XM_005252591.2:c.863T>C (CACNB2)	XP_005252648.1:p.Val288Ala
XM_006717502.2:c.1523T>C (CACNB2)	XP_006717565.1:p.Val508Ala
XM_011519659.1:c.1469T>C (CACNB2)	XP_011517961.1:p.Val490Ala
XM_011519660.1:c.1424T>C (CACNB2)	XP_011517962.1:p.Val475Ala
NM_001330060.1:c.1424T>C (CACNB2)	NP_001316989.1:p.Val475Ala
XM_005252588.4:c.1445T>C (CACNB2)	XP_005252645.1:p.Val482Ala
XM_005252591.3:c.863T>C (CACNB2)	XP_005252648.1:p.Val288Ala
XM_006717502.3:c.1523T>C (CACNB2)	XP_006717565.1:p.Val508Ala
XM_011519659.2:c.1469T>C (CACNB2)	XP_011517961.1:p.Val490Ala
XM_017016625.1:c.863T>C (CACNB2)	XP_016872114.1:p.Val288Ala
XR_001747060.1:n.2423+2625A>G (NSUN6)
XR_001747198.1:n.1828T>C (CACNB2)
NM_000724.4:c.1538T>C (CACNB2)	NP_000715.2:p.Val513Ala
NM_001167945.2:c.1505T>C (CACNB2)	NP_001161417.1:p.Val502Ala
NM_001330060.2:c.1424T>C (CACNB2)	NP_001316989.1:p.Val475Ala
NM_201570.3:c.1559T>C (CACNB2)	NP_963864.1:p.Val520Ala
NM_201571.4:c.1619T>C (CACNB2)	NP_963865.2:p.Val540Ala
NM_201572.4:c.1547T>C (CACNB2)	NP_963866.2:p.Val516Ala
NM_201590.3:c.1541T>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Val514Ala
NM_201593.3:c.1589T>C (CACNB2)	NP_963887.2:p.Val530Ala
NM_201596.3:c.1703T>C (CACNB2) MANE Select	NP_963890.2:p.Val568Ala
NM_201597.3:c.1631T>C (CACNB2)	NP_963891.1:p.Val544Ala