Canonical Allele Identifier: CA5430199

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 1488031
• ClinVar RCV Id: RCV002033696
• dbSNP Id: rs746092806
• ExAC: 10:18828567 C / T
• gnomAD v2: 10-18828567-C-T
• gnomAD v4: 10-18539638-C-T
• MyVariant Identifiers: chr10:g.18828567C>T (hg19) ; chr10:g.18539638C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539638C>T , CM000672.2:g.18539638C>T	GRCh38
NC_000010.10:g.18828567C>T , CM000672.1:g.18828567C>T	GRCh37
NC_000010.9:g.18868573C>T	NCBI36
NG_016195.1:g.403962C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000377315.6:c.1753C>T (CACNB2)	ENSP00000366532.4:p.Arg585Cys
ENST00000377319.9:c.1618C>T (CACNB2)	ENSP00000366536.3:p.Arg540Cys
ENST00000645287.2:c.1741C>T (CACNB2)	ENSP00000496203.1:p.Arg581Cys
ENST00000282343.13:c.1813C>T (CACNB2)	ENSP00000282343.8:p.Arg605Cys
ENST00000324631.13:c.1897C>T (CACNB2) MANE Select	ENSP00000320025.8:p.Arg633Cys
ENST00000377315.5:c.1753C>T (CACNB2)	ENSP00000366532.4:p.Arg585Cys
ENST00000377319.8:c.1618C>T (CACNB2)	ENSP00000366536.3:p.Arg540Cys
ENST00000377329.10:c.1735C>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg579Cys
ENST00000377331.8:c.1522C>T (CACNB2)	ENSP00000366548.4:p.Arg508Cys
ENST00000643096.2:c.1699C>T (CACNB2)	ENSP00000494209.2:p.Arg567Cys
ENST00000645287.1:c.1741C>T (CACNB2)	ENSP00000496203.1:p.Arg581Cys
ENST00000647168.2:c.*1038C>T (CACNB2)	ENSP00000495854.2:n.*1038C>T
ENST00000650685.1:c.1639C>T (CACNB2)	ENSP00000498460.1:p.Arg547Cys
ENST00000651330.1:c.*1171C>T (CACNB2)	ENSP00000498457.1:n.*1171C>T
ENST00000651468.1:c.1454C>T (CACNB2)	ENSP00000498352.1:n.1454C>T
ENST00000651928.1:c.*1136C>T (CACNB2)	ENSP00000499177.1:n.*1136C>T
ENST00000652391.1:c.1717C>T (CACNB2)	ENSP00000498938.1:p.Arg573Cys
ENST00000652478.1:c.*997C>T (CACNB2)	ENSP00000498812.1:n.*997C>T
ENST00000282343.12:c.1813C>T (CACNB2)	ENSP00000282343.8:p.Arg605Cys
ENST00000324631.11:c.1897C>T (CACNB2)	ENSP00000320025.7:p.Arg633Cys
ENST00000352115.10:c.1825C>T (CACNB2)	ENSP00000344474.6:p.Arg609Cys
ENST00000377315.4:c.1753C>T (CACNB2)	ENSP00000366532.4:p.Arg585Cys
ENST00000377319.7:c.1618C>T (CACNB2)	ENSP00000366536.3:p.Arg540Cys
ENST00000377328.5:c.1147C>T (CACNB2)	ENSP00000366545.1:p.Arg383Cys
ENST00000377329.8:c.1735C>T (CACNB2)	ENSP00000366546.4:p.Arg579Cys
ENST00000377331.6:c.1741C>T (CACNB2)	ENSP00000366548.2:p.Arg581Cys
ENST00000396576.6:c.1732C>T (CACNB2)	ENSP00000379821.2:p.Arg578Cys
ENST00000612134.4:c.1601C>T (CACNB2)	ENSP00000480563.1:n.1601C>T
ENST00000612743.1:c.409C>T (CACNB2)	ENSP00000478676.1:p.Arg137Cys
ENST00000615785.4:c.982C>T (CACNB2)	ENSP00000480260.1:p.Arg328Cys
ENST00000617363.4:c.1660C>T (CACNB2)	ENSP00000479756.1:p.Arg554Cys
NM_000724.3:c.1732C>T (CACNB2)	NP_000715.2:p.Arg578Cys
NM_001167945.1:c.1699C>T (CACNB2)	NP_001161417.1:p.Arg567Cys
NM_201570.2:c.1753C>T (CACNB2)	NP_963864.1:p.Arg585Cys
NM_201571.3:c.1813C>T (CACNB2)	NP_963865.2:p.Arg605Cys
NM_201572.3:c.1741C>T (CACNB2)	NP_963866.2:p.Arg581Cys
NM_201590.2:c.1735C>T (CACNB2)	NP_963884.2:p.Arg579Cys
NM_201593.2:c.1783C>T (CACNB2)	NP_963887.2:p.Arg595Cys
NM_201596.2:c.1897C>T (CACNB2)	NP_963890.2:p.Arg633Cys
NM_201597.2:c.1825C>T (CACNB2)	NP_963891.1:p.Arg609Cys
XM_005252588.2:c.1639C>T (CACNB2)	XP_005252645.1:p.Arg547Cys
XM_005252591.2:c.1057C>T (CACNB2)	XP_005252648.1:p.Arg353Cys
XM_006717502.2:c.1717C>T (CACNB2)	XP_006717565.1:p.Arg573Cys
XM_011519659.1:c.1663C>T (CACNB2)	XP_011517961.1:p.Arg555Cys
XM_011519660.1:c.1618C>T (CACNB2)	XP_011517962.1:p.Arg540Cys
NM_001330060.1:c.1618C>T (CACNB2)	NP_001316989.1:p.Arg540Cys
XM_005252588.4:c.1639C>T (CACNB2)	XP_005252645.1:p.Arg547Cys
XM_005252591.3:c.1057C>T (CACNB2)	XP_005252648.1:p.Arg353Cys
XM_006717502.3:c.1717C>T (CACNB2)	XP_006717565.1:p.Arg573Cys
XM_011519659.2:c.1663C>T (CACNB2)	XP_011517961.1:p.Arg555Cys
XM_017016625.1:c.1057C>T (CACNB2)	XP_016872114.1:p.Arg353Cys
XR_001747060.1:n.2423+2431G>A (NSUN6)
XR_001747198.1:n.2022C>T (CACNB2)
NM_000724.4:c.1732C>T (CACNB2)	NP_000715.2:p.Arg578Cys
NM_001167945.2:c.1699C>T (CACNB2)	NP_001161417.1:p.Arg567Cys
NM_001330060.2:c.1618C>T (CACNB2)	NP_001316989.1:p.Arg540Cys
NM_201570.3:c.1753C>T (CACNB2)	NP_963864.1:p.Arg585Cys
NM_201571.4:c.1813C>T (CACNB2)	NP_963865.2:p.Arg605Cys
NM_201572.4:c.1741C>T (CACNB2)	NP_963866.2:p.Arg581Cys
NM_201590.3:c.1735C>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg579Cys
NM_201593.3:c.1783C>T (CACNB2)	NP_963887.2:p.Arg595Cys
NM_201596.3:c.1897C>T (CACNB2) MANE Select	NP_963890.2:p.Arg633Cys
NM_201597.3:c.1825C>T (CACNB2)	NP_963891.1:p.Arg609Cys