Canonical Allele Identifier: CA10582712

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 242262
• ClinVar RCV Id: RCV000228679
• dbSNP Id: rs878855311
• MyVariant Identifiers: chr10:g.18828335T>G (hg19) ; chr10:g.18539406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539406T>G , CM000672.2:g.18539406T>G	GRCh38
NC_000010.10:g.18828335T>G , CM000672.1:g.18828335T>G	GRCh37
NC_000010.9:g.18868341T>G	NCBI36
NG_016195.1:g.403730T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1521T>G (CACNB2)	ENSP00000366532.4:p.Phe507Leu
ENST00000377319.9:c.1386T>G (CACNB2)	ENSP00000366536.3:p.Phe462Leu
ENST00000645287.2:c.1509T>G (CACNB2)	ENSP00000496203.1:p.Phe503Leu
ENST00000282343.13:c.1581T>G (CACNB2)	ENSP00000282343.8:p.Phe527Leu
ENST00000324631.13:c.1665T>G (CACNB2) MANE Select	ENSP00000320025.8:p.Phe555Leu
ENST00000377315.5:c.1521T>G (CACNB2)	ENSP00000366532.4:p.Phe507Leu
ENST00000377319.8:c.1386T>G (CACNB2)	ENSP00000366536.3:p.Phe462Leu
ENST00000377329.10:c.1503T>G (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Phe501Leu
ENST00000377331.8:c.1290T>G (CACNB2)	ENSP00000366548.4:p.Phe430Leu
ENST00000643096.2:c.1467T>G (CACNB2)	ENSP00000494209.2:p.Phe489Leu
ENST00000645287.1:c.1509T>G (CACNB2)	ENSP00000496203.1:p.Phe503Leu
ENST00000647168.2:c.*806T>G (CACNB2)	ENSP00000495854.2:n.*806T>G
ENST00000650685.1:c.1407T>G (CACNB2)	ENSP00000498460.1:p.Phe469Leu
ENST00000651330.1:c.*939T>G (CACNB2)	ENSP00000498457.1:n.*939T>G
ENST00000651468.1:c.1222T>G (CACNB2)	ENSP00000498352.1:n.1222T>G
ENST00000651928.1:c.*904T>G (CACNB2)	ENSP00000499177.1:n.*904T>G
ENST00000652391.1:c.1485T>G (CACNB2)	ENSP00000498938.1:p.Phe495Leu
ENST00000652478.1:c.*765T>G (CACNB2)	ENSP00000498812.1:n.*765T>G
ENST00000282343.12:c.1581T>G (CACNB2)	ENSP00000282343.8:p.Phe527Leu
ENST00000324631.11:c.1665T>G (CACNB2)	ENSP00000320025.7:p.Phe555Leu
ENST00000352115.10:c.1593T>G (CACNB2)	ENSP00000344474.6:p.Phe531Leu
ENST00000377315.4:c.1521T>G (CACNB2)	ENSP00000366532.4:p.Phe507Leu
ENST00000377319.7:c.1386T>G (CACNB2)	ENSP00000366536.3:p.Phe462Leu
ENST00000377328.5:c.915T>G (CACNB2)	ENSP00000366545.1:p.Phe305Leu
ENST00000377329.8:c.1503T>G (CACNB2)	ENSP00000366546.4:p.Phe501Leu
ENST00000377331.6:c.1509T>G (CACNB2)	ENSP00000366548.2:p.Phe503Leu
ENST00000396576.6:c.1500T>G (CACNB2)	ENSP00000379821.2:p.Phe500Leu
ENST00000612134.4:c.1369T>G (CACNB2)	ENSP00000480563.1:n.1369T>G
ENST00000612743.1:c.177T>G (CACNB2)	ENSP00000478676.1:p.Phe59Leu
ENST00000615785.4:c.750T>G (CACNB2)	ENSP00000480260.1:p.Phe250Leu
ENST00000617363.4:c.1428T>G (CACNB2)	ENSP00000479756.1:p.Phe476Leu
NM_000724.3:c.1500T>G (CACNB2)	NP_000715.2:p.Phe500Leu
NM_001167945.1:c.1467T>G (CACNB2)	NP_001161417.1:p.Phe489Leu
NM_201570.2:c.1521T>G (CACNB2)	NP_963864.1:p.Phe507Leu
NM_201571.3:c.1581T>G (CACNB2)	NP_963865.2:p.Phe527Leu
NM_201572.3:c.1509T>G (CACNB2)	NP_963866.2:p.Phe503Leu
NM_201590.2:c.1503T>G (CACNB2)	NP_963884.2:p.Phe501Leu
NM_201593.2:c.1551T>G (CACNB2)	NP_963887.2:p.Phe517Leu
NM_201596.2:c.1665T>G (CACNB2)	NP_963890.2:p.Phe555Leu
NM_201597.2:c.1593T>G (CACNB2)	NP_963891.1:p.Phe531Leu
XM_005252588.2:c.1407T>G (CACNB2)	XP_005252645.1:p.Phe469Leu
XM_005252591.2:c.825T>G (CACNB2)	XP_005252648.1:p.Phe275Leu
XM_006717502.2:c.1485T>G (CACNB2)	XP_006717565.1:p.Phe495Leu
XM_011519659.1:c.1431T>G (CACNB2)	XP_011517961.1:p.Phe477Leu
XM_011519660.1:c.1386T>G (CACNB2)	XP_011517962.1:p.Phe462Leu
NM_001330060.1:c.1386T>G (CACNB2)	NP_001316989.1:p.Phe462Leu
XM_005252588.4:c.1407T>G (CACNB2)	XP_005252645.1:p.Phe469Leu
XM_005252591.3:c.825T>G (CACNB2)	XP_005252648.1:p.Phe275Leu
XM_006717502.3:c.1485T>G (CACNB2)	XP_006717565.1:p.Phe495Leu
XM_011519659.2:c.1431T>G (CACNB2)	XP_011517961.1:p.Phe477Leu
XM_017016625.1:c.825T>G (CACNB2)	XP_016872114.1:p.Phe275Leu
XR_001747060.1:n.2423+2663A>C (NSUN6)
XR_001747198.1:n.1790T>G (CACNB2)
NM_000724.4:c.1500T>G (CACNB2)	NP_000715.2:p.Phe500Leu
NM_001167945.2:c.1467T>G (CACNB2)	NP_001161417.1:p.Phe489Leu
NM_001330060.2:c.1386T>G (CACNB2)	NP_001316989.1:p.Phe462Leu
NM_201570.3:c.1521T>G (CACNB2)	NP_963864.1:p.Phe507Leu
NM_201571.4:c.1581T>G (CACNB2)	NP_963865.2:p.Phe527Leu
NM_201572.4:c.1509T>G (CACNB2)	NP_963866.2:p.Phe503Leu
NM_201590.3:c.1503T>G (CACNB2) MANE Plus Clinical	NP_963884.2:p.Phe501Leu
NM_201593.3:c.1551T>G (CACNB2)	NP_963887.2:p.Phe517Leu
NM_201596.3:c.1665T>G (CACNB2) MANE Select	NP_963890.2:p.Phe555Leu
NM_201597.3:c.1593T>G (CACNB2)	NP_963891.1:p.Phe531Leu