Canonical Allele Identifier: CA5430128

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 1399519
• ClinVar RCV Id: RCV001917726 ; RCV002388796
• dbSNP Id: rs760811952
• ExAC: 10:18828357 C / G
• gnomAD v2: 10-18828357-C-G
• gnomAD v3: 10-18539428-C-G
• gnomAD v4: 10-18539428-C-G
• MyVariant Identifiers: chr10:g.18828357C>G (hg19) ; chr10:g.18828357_18828374delinsGGAGACTCTGCCTACGTA (hg19) ; chr10:g.18539428C>G (hg38) ; chr10:g.18539428_18539445delinsGGAGACTCTGCCTACGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539428C>G , CM000672.2:g.18539428C>G	GRCh38
NC_000010.10:g.18828357C>G , CM000672.1:g.18828357C>G	GRCh37
NC_000010.9:g.18868363C>G	NCBI36
NG_016195.1:g.403752C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1543C>G (CACNB2)	ENSP00000366532.4:p.Arg515Gly
ENST00000377319.9:c.1408C>G (CACNB2)	ENSP00000366536.3:p.Arg470Gly
ENST00000645287.2:c.1531C>G (CACNB2)	ENSP00000496203.1:p.Arg511Gly
ENST00000282343.13:c.1603C>G (CACNB2)	ENSP00000282343.8:p.Arg535Gly
ENST00000324631.13:c.1687C>G (CACNB2) MANE Select	ENSP00000320025.8:p.Arg563Gly
ENST00000377315.5:c.1543C>G (CACNB2)	ENSP00000366532.4:p.Arg515Gly
ENST00000377319.8:c.1408C>G (CACNB2)	ENSP00000366536.3:p.Arg470Gly
ENST00000377329.10:c.1525C>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg509Gly
ENST00000377331.8:c.1312C>G (CACNB2)	ENSP00000366548.4:p.Arg438Gly
ENST00000643096.2:c.1489C>G (CACNB2)	ENSP00000494209.2:p.Arg497Gly
ENST00000645287.1:c.1531C>G (CACNB2)	ENSP00000496203.1:p.Arg511Gly
ENST00000647168.2:c.*828C>G (CACNB2)	ENSP00000495854.2:n.*828C>G
ENST00000650685.1:c.1429C>G (CACNB2)	ENSP00000498460.1:p.Arg477Gly
ENST00000651330.1:c.*961C>G (CACNB2)	ENSP00000498457.1:n.*961C>G
ENST00000651468.1:c.1244C>G (CACNB2)	ENSP00000498352.1:n.1244C>G
ENST00000651928.1:c.*926C>G (CACNB2)	ENSP00000499177.1:n.*926C>G
ENST00000652391.1:c.1507C>G (CACNB2)	ENSP00000498938.1:p.Arg503Gly
ENST00000652478.1:c.*787C>G (CACNB2)	ENSP00000498812.1:n.*787C>G
ENST00000282343.12:c.1603C>G (CACNB2)	ENSP00000282343.8:p.Arg535Gly
ENST00000324631.11:c.1687C>G (CACNB2)	ENSP00000320025.7:p.Arg563Gly
ENST00000352115.10:c.1615C>G (CACNB2)	ENSP00000344474.6:p.Arg539Gly
ENST00000377315.4:c.1543C>G (CACNB2)	ENSP00000366532.4:p.Arg515Gly
ENST00000377319.7:c.1408C>G (CACNB2)	ENSP00000366536.3:p.Arg470Gly
ENST00000377328.5:c.937C>G (CACNB2)	ENSP00000366545.1:p.Arg313Gly
ENST00000377329.8:c.1525C>G (CACNB2)	ENSP00000366546.4:p.Arg509Gly
ENST00000377331.6:c.1531C>G (CACNB2)	ENSP00000366548.2:p.Arg511Gly
ENST00000396576.6:c.1522C>G (CACNB2)	ENSP00000379821.2:p.Arg508Gly
ENST00000612134.4:c.1391C>G (CACNB2)	ENSP00000480563.1:n.1391C>G
ENST00000612743.1:c.199C>G (CACNB2)	ENSP00000478676.1:p.Arg67Gly
ENST00000615785.4:c.772C>G (CACNB2)	ENSP00000480260.1:p.Arg258Gly
ENST00000617363.4:c.1450C>G (CACNB2)	ENSP00000479756.1:p.Arg484Gly
NM_000724.3:c.1522C>G (CACNB2)	NP_000715.2:p.Arg508Gly
NM_001167945.1:c.1489C>G (CACNB2)	NP_001161417.1:p.Arg497Gly
NM_201570.2:c.1543C>G (CACNB2)	NP_963864.1:p.Arg515Gly
NM_201571.3:c.1603C>G (CACNB2)	NP_963865.2:p.Arg535Gly
NM_201572.3:c.1531C>G (CACNB2)	NP_963866.2:p.Arg511Gly
NM_201590.2:c.1525C>G (CACNB2)	NP_963884.2:p.Arg509Gly
NM_201593.2:c.1573C>G (CACNB2)	NP_963887.2:p.Arg525Gly
NM_201596.2:c.1687C>G (CACNB2)	NP_963890.2:p.Arg563Gly
NM_201597.2:c.1615C>G (CACNB2)	NP_963891.1:p.Arg539Gly
XM_005252588.2:c.1429C>G (CACNB2)	XP_005252645.1:p.Arg477Gly
XM_005252591.2:c.847C>G (CACNB2)	XP_005252648.1:p.Arg283Gly
XM_006717502.2:c.1507C>G (CACNB2)	XP_006717565.1:p.Arg503Gly
XM_011519659.1:c.1453C>G (CACNB2)	XP_011517961.1:p.Arg485Gly
XM_011519660.1:c.1408C>G (CACNB2)	XP_011517962.1:p.Arg470Gly
NM_001330060.1:c.1408C>G (CACNB2)	NP_001316989.1:p.Arg470Gly
XM_005252588.4:c.1429C>G (CACNB2)	XP_005252645.1:p.Arg477Gly
XM_005252591.3:c.847C>G (CACNB2)	XP_005252648.1:p.Arg283Gly
XM_006717502.3:c.1507C>G (CACNB2)	XP_006717565.1:p.Arg503Gly
XM_011519659.2:c.1453C>G (CACNB2)	XP_011517961.1:p.Arg485Gly
XM_017016625.1:c.847C>G (CACNB2)	XP_016872114.1:p.Arg283Gly
XR_001747060.1:n.2423+2641G>C (NSUN6)
XR_001747198.1:n.1812C>G (CACNB2)
NM_000724.4:c.1522C>G (CACNB2)	NP_000715.2:p.Arg508Gly
NM_001167945.2:c.1489C>G (CACNB2)	NP_001161417.1:p.Arg497Gly
NM_001330060.2:c.1408C>G (CACNB2)	NP_001316989.1:p.Arg470Gly
NM_201570.3:c.1543C>G (CACNB2)	NP_963864.1:p.Arg515Gly
NM_201571.4:c.1603C>G (CACNB2)	NP_963865.2:p.Arg535Gly
NM_201572.4:c.1531C>G (CACNB2)	NP_963866.2:p.Arg511Gly
NM_201590.3:c.1525C>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg509Gly
NM_201593.3:c.1573C>G (CACNB2)	NP_963887.2:p.Arg525Gly
NM_201596.3:c.1687C>G (CACNB2) MANE Select	NP_963890.2:p.Arg563Gly
NM_201597.3:c.1615C>G (CACNB2)	NP_963891.1:p.Arg539Gly