Canonical Allele Identifier: CA16616914

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 417912
• ClinVar RCV Id: RCV000477754 ; RCV000588292 ; RCV000621687
• dbSNP Id: rs545095722
• gnomAD v2: 10-18828498-C-T
• gnomAD v3: 10-18539569-C-T
• gnomAD v4: 10-18539569-C-T
• COSMIC: COSM6445550 ; COSM6445551 ; COSM6445552 ; COSM6445553 ; COSM6445554 ; COSM6445555
• MyVariant Identifiers: chr10:g.18828498C>T (hg19) ; chr10:g.18539569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539569C>T , CM000672.2:g.18539569C>T	GRCh38
NC_000010.10:g.18828498C>T , CM000672.1:g.18828498C>T	GRCh37
NC_000010.9:g.18868504C>T	NCBI36
NG_016195.1:g.403893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1684C>T (CACNB2)	ENSP00000366532.4:p.Arg562Trp
ENST00000377319.9:c.1549C>T (CACNB2)	ENSP00000366536.3:p.Arg517Trp
ENST00000645287.2:c.1672C>T (CACNB2)	ENSP00000496203.1:p.Arg558Trp
ENST00000282343.13:c.1744C>T (CACNB2)	ENSP00000282343.8:p.Arg582Trp
ENST00000324631.13:c.1828C>T (CACNB2) MANE Select	ENSP00000320025.8:p.Arg610Trp
ENST00000377315.5:c.1684C>T (CACNB2)	ENSP00000366532.4:p.Arg562Trp
ENST00000377319.8:c.1549C>T (CACNB2)	ENSP00000366536.3:p.Arg517Trp
ENST00000377329.10:c.1666C>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Arg556Trp
ENST00000377331.8:c.1453C>T (CACNB2)	ENSP00000366548.4:p.Arg485Trp
ENST00000643096.2:c.1630C>T (CACNB2)	ENSP00000494209.2:p.Arg544Trp
ENST00000645287.1:c.1672C>T (CACNB2)	ENSP00000496203.1:p.Arg558Trp
ENST00000647168.2:c.*969C>T (CACNB2)	ENSP00000495854.2:n.*969C>T
ENST00000650685.1:c.1570C>T (CACNB2)	ENSP00000498460.1:p.Arg524Trp
ENST00000651330.1:c.*1102C>T (CACNB2)	ENSP00000498457.1:n.*1102C>T
ENST00000651468.1:c.1385C>T (CACNB2)	ENSP00000498352.1:n.1385C>T
ENST00000651928.1:c.*1067C>T (CACNB2)	ENSP00000499177.1:n.*1067C>T
ENST00000652391.1:c.1648C>T (CACNB2)	ENSP00000498938.1:p.Arg550Trp
ENST00000652478.1:c.*928C>T (CACNB2)	ENSP00000498812.1:n.*928C>T
ENST00000282343.12:c.1744C>T (CACNB2)	ENSP00000282343.8:p.Arg582Trp
ENST00000324631.11:c.1828C>T (CACNB2)	ENSP00000320025.7:p.Arg610Trp
ENST00000352115.10:c.1756C>T (CACNB2)	ENSP00000344474.6:p.Arg586Trp
ENST00000377315.4:c.1684C>T (CACNB2)	ENSP00000366532.4:p.Arg562Trp
ENST00000377319.7:c.1549C>T (CACNB2)	ENSP00000366536.3:p.Arg517Trp
ENST00000377328.5:c.1078C>T (CACNB2)	ENSP00000366545.1:p.Arg360Trp
ENST00000377329.8:c.1666C>T (CACNB2)	ENSP00000366546.4:p.Arg556Trp
ENST00000377331.6:c.1672C>T (CACNB2)	ENSP00000366548.2:p.Arg558Trp
ENST00000396576.6:c.1663C>T (CACNB2)	ENSP00000379821.2:p.Arg555Trp
ENST00000612134.4:c.1532C>T (CACNB2)	ENSP00000480563.1:n.1532C>T
ENST00000612743.1:c.340C>T (CACNB2)	ENSP00000478676.1:p.Arg114Trp
ENST00000615785.4:c.913C>T (CACNB2)	ENSP00000480260.1:p.Arg305Trp
ENST00000617363.4:c.1591C>T (CACNB2)	ENSP00000479756.1:p.Arg531Trp
NM_000724.3:c.1663C>T (CACNB2)	NP_000715.2:p.Arg555Trp
NM_001167945.1:c.1630C>T (CACNB2)	NP_001161417.1:p.Arg544Trp
NM_201570.2:c.1684C>T (CACNB2)	NP_963864.1:p.Arg562Trp
NM_201571.3:c.1744C>T (CACNB2)	NP_963865.2:p.Arg582Trp
NM_201572.3:c.1672C>T (CACNB2)	NP_963866.2:p.Arg558Trp
NM_201590.2:c.1666C>T (CACNB2)	NP_963884.2:p.Arg556Trp
NM_201593.2:c.1714C>T (CACNB2)	NP_963887.2:p.Arg572Trp
NM_201596.2:c.1828C>T (CACNB2)	NP_963890.2:p.Arg610Trp
NM_201597.2:c.1756C>T (CACNB2)	NP_963891.1:p.Arg586Trp
XM_005252588.2:c.1570C>T (CACNB2)	XP_005252645.1:p.Arg524Trp
XM_005252591.2:c.988C>T (CACNB2)	XP_005252648.1:p.Arg330Trp
XM_006717502.2:c.1648C>T (CACNB2)	XP_006717565.1:p.Arg550Trp
XM_011519659.1:c.1594C>T (CACNB2)	XP_011517961.1:p.Arg532Trp
XM_011519660.1:c.1549C>T (CACNB2)	XP_011517962.1:p.Arg517Trp
NM_001330060.1:c.1549C>T (CACNB2)	NP_001316989.1:p.Arg517Trp
XM_005252588.4:c.1570C>T (CACNB2)	XP_005252645.1:p.Arg524Trp
XM_005252591.3:c.988C>T (CACNB2)	XP_005252648.1:p.Arg330Trp
XM_006717502.3:c.1648C>T (CACNB2)	XP_006717565.1:p.Arg550Trp
XM_011519659.2:c.1594C>T (CACNB2)	XP_011517961.1:p.Arg532Trp
XM_017016625.1:c.988C>T (CACNB2)	XP_016872114.1:p.Arg330Trp
XR_001747060.1:n.2423+2500G>A (NSUN6)
XR_001747198.1:n.1953C>T (CACNB2)
NM_000724.4:c.1663C>T (CACNB2)	NP_000715.2:p.Arg555Trp
NM_001167945.2:c.1630C>T (CACNB2)	NP_001161417.1:p.Arg544Trp
NM_001330060.2:c.1549C>T (CACNB2)	NP_001316989.1:p.Arg517Trp
NM_201570.3:c.1684C>T (CACNB2)	NP_963864.1:p.Arg562Trp
NM_201571.4:c.1744C>T (CACNB2)	NP_963865.2:p.Arg582Trp
NM_201572.4:c.1672C>T (CACNB2)	NP_963866.2:p.Arg558Trp
NM_201590.3:c.1666C>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Arg556Trp
NM_201593.3:c.1714C>T (CACNB2)	NP_963887.2:p.Arg572Trp
NM_201596.3:c.1828C>T (CACNB2) MANE Select	NP_963890.2:p.Arg610Trp
NM_201597.3:c.1756C>T (CACNB2)	NP_963891.1:p.Arg586Trp