Canonical Allele Identifier: CA301823

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 190717
• ClinVar RCV Id: RCV000170858 ; RCV000703877 ; RCV000852603 ; RCV003226235 ; RCV002399604
• dbSNP Id: rs142639223
• ExAC: 10:18828372 G / A
• gnomAD v2: 10-18828372-G-A
• gnomAD v3: 10-18539443-G-A
• gnomAD v4: 10-18539443-G-A
• MyVariant Identifiers: chr10:g.18828372G>A (hg19) ; chr10:g.18539443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539443G>A , CM000672.2:g.18539443G>A	GRCh38
NC_000010.10:g.18828372G>A , CM000672.1:g.18828372G>A	GRCh37
NC_000010.9:g.18868378G>A	NCBI36
NG_016195.1:g.403767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1558G>A (CACNB2)	ENSP00000366532.4:p.Val520Ile
ENST00000377319.9:c.1423G>A (CACNB2)	ENSP00000366536.3:p.Val475Ile
ENST00000645287.2:c.1546G>A (CACNB2)	ENSP00000496203.1:p.Val516Ile
ENST00000282343.13:c.1618G>A (CACNB2)	ENSP00000282343.8:p.Val540Ile
ENST00000324631.13:c.1702G>A (CACNB2) MANE Select	ENSP00000320025.8:p.Val568Ile
ENST00000377315.5:c.1558G>A (CACNB2)	ENSP00000366532.4:p.Val520Ile
ENST00000377319.8:c.1423G>A (CACNB2)	ENSP00000366536.3:p.Val475Ile
ENST00000377329.10:c.1540G>A (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Val514Ile
ENST00000377331.8:c.1327G>A (CACNB2)	ENSP00000366548.4:p.Val443Ile
ENST00000643096.2:c.1504G>A (CACNB2)	ENSP00000494209.2:p.Val502Ile
ENST00000645287.1:c.1546G>A (CACNB2)	ENSP00000496203.1:p.Val516Ile
ENST00000647168.2:c.*843G>A (CACNB2)	ENSP00000495854.2:n.*843G>A
ENST00000650685.1:c.1444G>A (CACNB2)	ENSP00000498460.1:p.Val482Ile
ENST00000651330.1:c.*976G>A (CACNB2)	ENSP00000498457.1:n.*976G>A
ENST00000651468.1:c.1259G>A (CACNB2)	ENSP00000498352.1:n.1259G>A
ENST00000651928.1:c.*941G>A (CACNB2)	ENSP00000499177.1:n.*941G>A
ENST00000652391.1:c.1522G>A (CACNB2)	ENSP00000498938.1:p.Val508Ile
ENST00000652478.1:c.*802G>A (CACNB2)	ENSP00000498812.1:n.*802G>A
ENST00000282343.12:c.1618G>A (CACNB2)	ENSP00000282343.8:p.Val540Ile
ENST00000324631.11:c.1702G>A (CACNB2)	ENSP00000320025.7:p.Val568Ile
ENST00000352115.10:c.1630G>A (CACNB2)	ENSP00000344474.6:p.Val544Ile
ENST00000377315.4:c.1558G>A (CACNB2)	ENSP00000366532.4:p.Val520Ile
ENST00000377319.7:c.1423G>A (CACNB2)	ENSP00000366536.3:p.Val475Ile
ENST00000377328.5:c.952G>A (CACNB2)	ENSP00000366545.1:p.Val318Ile
ENST00000377329.8:c.1540G>A (CACNB2)	ENSP00000366546.4:p.Val514Ile
ENST00000377331.6:c.1546G>A (CACNB2)	ENSP00000366548.2:p.Val516Ile
ENST00000396576.6:c.1537G>A (CACNB2)	ENSP00000379821.2:p.Val513Ile
ENST00000612134.4:c.1406G>A (CACNB2)	ENSP00000480563.1:n.1406G>A
ENST00000612743.1:c.214G>A (CACNB2)	ENSP00000478676.1:p.Val72Ile
ENST00000615785.4:c.787G>A (CACNB2)	ENSP00000480260.1:p.Val263Ile
ENST00000617363.4:c.1465G>A (CACNB2)	ENSP00000479756.1:p.Val489Ile
NM_000724.3:c.1537G>A (CACNB2)	NP_000715.2:p.Val513Ile
NM_001167945.1:c.1504G>A (CACNB2)	NP_001161417.1:p.Val502Ile
NM_201570.2:c.1558G>A (CACNB2)	NP_963864.1:p.Val520Ile
NM_201571.3:c.1618G>A (CACNB2)	NP_963865.2:p.Val540Ile
NM_201572.3:c.1546G>A (CACNB2)	NP_963866.2:p.Val516Ile
NM_201590.2:c.1540G>A (CACNB2)	NP_963884.2:p.Val514Ile
NM_201593.2:c.1588G>A (CACNB2)	NP_963887.2:p.Val530Ile
NM_201596.2:c.1702G>A (CACNB2)	NP_963890.2:p.Val568Ile
NM_201597.2:c.1630G>A (CACNB2)	NP_963891.1:p.Val544Ile
XM_005252588.2:c.1444G>A (CACNB2)	XP_005252645.1:p.Val482Ile
XM_005252591.2:c.862G>A (CACNB2)	XP_005252648.1:p.Val288Ile
XM_006717502.2:c.1522G>A (CACNB2)	XP_006717565.1:p.Val508Ile
XM_011519659.1:c.1468G>A (CACNB2)	XP_011517961.1:p.Val490Ile
XM_011519660.1:c.1423G>A (CACNB2)	XP_011517962.1:p.Val475Ile
NM_001330060.1:c.1423G>A (CACNB2)	NP_001316989.1:p.Val475Ile
XM_005252588.4:c.1444G>A (CACNB2)	XP_005252645.1:p.Val482Ile
XM_005252591.3:c.862G>A (CACNB2)	XP_005252648.1:p.Val288Ile
XM_006717502.3:c.1522G>A (CACNB2)	XP_006717565.1:p.Val508Ile
XM_011519659.2:c.1468G>A (CACNB2)	XP_011517961.1:p.Val490Ile
XM_017016625.1:c.862G>A (CACNB2)	XP_016872114.1:p.Val288Ile
XR_001747060.1:n.2423+2626C>T (NSUN6)
XR_001747198.1:n.1827G>A (CACNB2)
NM_000724.4:c.1537G>A (CACNB2)	NP_000715.2:p.Val513Ile
NM_001167945.2:c.1504G>A (CACNB2)	NP_001161417.1:p.Val502Ile
NM_001330060.2:c.1423G>A (CACNB2)	NP_001316989.1:p.Val475Ile
NM_201570.3:c.1558G>A (CACNB2)	NP_963864.1:p.Val520Ile
NM_201571.4:c.1618G>A (CACNB2)	NP_963865.2:p.Val540Ile
NM_201572.4:c.1546G>A (CACNB2)	NP_963866.2:p.Val516Ile
NM_201590.3:c.1540G>A (CACNB2) MANE Plus Clinical	NP_963884.2:p.Val514Ile
NM_201593.3:c.1588G>A (CACNB2)	NP_963887.2:p.Val530Ile
NM_201596.3:c.1702G>A (CACNB2) MANE Select	NP_963890.2:p.Val568Ile
NM_201597.3:c.1630G>A (CACNB2)	NP_963891.1:p.Val544Ile