Canonical Allele Identifier: CA5430116

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 537368
• ClinVar RCV Id: RCV000646201 ; RCV000786282
• dbSNP Id: rs774654438
• ExAC: 10:18828309 C / T
• gnomAD v2: 10-18828309-C-T
• gnomAD v3: 10-18539380-C-T
• gnomAD v4: 10-18539380-C-T
• MyVariant Identifiers: chr10:g.18828309C>T (hg19) ; chr10:g.18539380C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539380C>T , CM000672.2:g.18539380C>T	GRCh38
NC_000010.10:g.18828309C>T , CM000672.1:g.18828309C>T	GRCh37
NC_000010.9:g.18868315C>T	NCBI36
NG_016195.1:g.403704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1495C>T (CACNB2)	ENSP00000366532.4:p.Arg499Cys
ENST00000377319.9:c.1360C>T (CACNB2)	ENSP00000366536.3:p.Arg454Cys
ENST00000645287.2:c.1483C>T (CACNB2)	ENSP00000496203.1:p.Arg495Cys
ENST00000282343.13:c.1555C>T (CACNB2)	ENSP00000282343.8:p.Arg519Cys
ENST00000324631.13:c.1639C>T (CACNB2) MANE Select	ENSP00000320025.8:p.Arg547Cys
ENST00000377315.5:c.1495C>T (CACNB2)	ENSP00000366532.4:p.Arg499Cys
ENST00000377319.8:c.1360C>T (CACNB2)	ENSP00000366536.3:p.Arg454Cys
ENST00000377329.10:c.1477C>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg493Cys
ENST00000377331.8:c.1264C>T (CACNB2)	ENSP00000366548.4:p.Arg422Cys
ENST00000643096.2:c.1441C>T (CACNB2)	ENSP00000494209.2:p.Arg481Cys
ENST00000645287.1:c.1483C>T (CACNB2)	ENSP00000496203.1:p.Arg495Cys
ENST00000647168.2:c.*780C>T (CACNB2)	ENSP00000495854.2:n.*780C>T
ENST00000650685.1:c.1381C>T (CACNB2)	ENSP00000498460.1:p.Arg461Cys
ENST00000651330.1:c.*913C>T (CACNB2)	ENSP00000498457.1:n.*913C>T
ENST00000651468.1:c.1196C>T (CACNB2)	ENSP00000498352.1:n.1196C>T
ENST00000651928.1:c.*878C>T (CACNB2)	ENSP00000499177.1:n.*878C>T
ENST00000652391.1:c.1459C>T (CACNB2)	ENSP00000498938.1:p.Arg487Cys
ENST00000652478.1:c.*739C>T (CACNB2)	ENSP00000498812.1:n.*739C>T
ENST00000282343.12:c.1555C>T (CACNB2)	ENSP00000282343.8:p.Arg519Cys
ENST00000324631.11:c.1639C>T (CACNB2)	ENSP00000320025.7:p.Arg547Cys
ENST00000352115.10:c.1567C>T (CACNB2)	ENSP00000344474.6:p.Arg523Cys
ENST00000377315.4:c.1495C>T (CACNB2)	ENSP00000366532.4:p.Arg499Cys
ENST00000377319.7:c.1360C>T (CACNB2)	ENSP00000366536.3:p.Arg454Cys
ENST00000377328.5:c.889C>T (CACNB2)	ENSP00000366545.1:p.Arg297Cys
ENST00000377329.8:c.1477C>T (CACNB2)	ENSP00000366546.4:p.Arg493Cys
ENST00000377331.6:c.1483C>T (CACNB2)	ENSP00000366548.2:p.Arg495Cys
ENST00000396576.6:c.1474C>T (CACNB2)	ENSP00000379821.2:p.Arg492Cys
ENST00000612134.4:c.1343C>T (CACNB2)	ENSP00000480563.1:n.1343C>T
ENST00000612743.1:c.151C>T (CACNB2)	ENSP00000478676.1:p.Arg51Cys
ENST00000615785.4:c.724C>T (CACNB2)	ENSP00000480260.1:p.Arg242Cys
ENST00000617363.4:c.1402C>T (CACNB2)	ENSP00000479756.1:p.Arg468Cys
NM_000724.3:c.1474C>T (CACNB2)	NP_000715.2:p.Arg492Cys
NM_001167945.1:c.1441C>T (CACNB2)	NP_001161417.1:p.Arg481Cys
NM_201570.2:c.1495C>T (CACNB2)	NP_963864.1:p.Arg499Cys
NM_201571.3:c.1555C>T (CACNB2)	NP_963865.2:p.Arg519Cys
NM_201572.3:c.1483C>T (CACNB2)	NP_963866.2:p.Arg495Cys
NM_201590.2:c.1477C>T (CACNB2)	NP_963884.2:p.Arg493Cys
NM_201593.2:c.1525C>T (CACNB2)	NP_963887.2:p.Arg509Cys
NM_201596.2:c.1639C>T (CACNB2)	NP_963890.2:p.Arg547Cys
NM_201597.2:c.1567C>T (CACNB2)	NP_963891.1:p.Arg523Cys
XM_005252588.2:c.1381C>T (CACNB2)	XP_005252645.1:p.Arg461Cys
XM_005252591.2:c.799C>T (CACNB2)	XP_005252648.1:p.Arg267Cys
XM_006717502.2:c.1459C>T (CACNB2)	XP_006717565.1:p.Arg487Cys
XM_011519659.1:c.1405C>T (CACNB2)	XP_011517961.1:p.Arg469Cys
XM_011519660.1:c.1360C>T (CACNB2)	XP_011517962.1:p.Arg454Cys
NM_001330060.1:c.1360C>T (CACNB2)	NP_001316989.1:p.Arg454Cys
XM_005252588.4:c.1381C>T (CACNB2)	XP_005252645.1:p.Arg461Cys
XM_005252591.3:c.799C>T (CACNB2)	XP_005252648.1:p.Arg267Cys
XM_006717502.3:c.1459C>T (CACNB2)	XP_006717565.1:p.Arg487Cys
XM_011519659.2:c.1405C>T (CACNB2)	XP_011517961.1:p.Arg469Cys
XM_017016625.1:c.799C>T (CACNB2)	XP_016872114.1:p.Arg267Cys
XR_001747060.1:n.2423+2689G>A (NSUN6)
XR_001747198.1:n.1764C>T (CACNB2)
NM_000724.4:c.1474C>T (CACNB2)	NP_000715.2:p.Arg492Cys
NM_001167945.2:c.1441C>T (CACNB2)	NP_001161417.1:p.Arg481Cys
NM_001330060.2:c.1360C>T (CACNB2)	NP_001316989.1:p.Arg454Cys
NM_201570.3:c.1495C>T (CACNB2)	NP_963864.1:p.Arg499Cys
NM_201571.4:c.1555C>T (CACNB2)	NP_963865.2:p.Arg519Cys
NM_201572.4:c.1483C>T (CACNB2)	NP_963866.2:p.Arg495Cys
NM_201590.3:c.1477C>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg493Cys
NM_201593.3:c.1525C>T (CACNB2)	NP_963887.2:p.Arg509Cys
NM_201596.3:c.1639C>T (CACNB2) MANE Select	NP_963890.2:p.Arg547Cys
NM_201597.3:c.1567C>T (CACNB2)	NP_963891.1:p.Arg523Cys