Canonical Allele Identifier: CA376072591

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 2615354
• ClinVar RCV Id: RCV004356704
• gnomAD v4: 10-18539590-G-C
• MyVariant Identifiers: chr10:g.18828519G>C (hg19) ; chr10:g.18539590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539590G>C , CM000672.2:g.18539590G>C	GRCh38
NC_000010.10:g.18828519G>C , CM000672.1:g.18828519G>C	GRCh37
NC_000010.9:g.18868525G>C	NCBI36
NG_016195.1:g.403914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1705G>C (CACNB2)	ENSP00000366532.4:p.Asp569His
ENST00000377319.9:c.1570G>C (CACNB2)	ENSP00000366536.3:p.Asp524His
ENST00000645287.2:c.1693G>C (CACNB2)	ENSP00000496203.1:p.Asp565His
ENST00000282343.13:c.1765G>C (CACNB2)	ENSP00000282343.8:p.Asp589His
ENST00000324631.13:c.1849G>C (CACNB2) MANE Select	ENSP00000320025.8:p.Asp617His
ENST00000377315.5:c.1705G>C (CACNB2)	ENSP00000366532.4:p.Asp569His
ENST00000377319.8:c.1570G>C (CACNB2)	ENSP00000366536.3:p.Asp524His
ENST00000377329.10:c.1687G>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp563His
ENST00000377331.8:c.1474G>C (CACNB2)	ENSP00000366548.4:p.Asp492His
ENST00000643096.2:c.1651G>C (CACNB2)	ENSP00000494209.2:p.Asp551His
ENST00000645287.1:c.1693G>C (CACNB2)	ENSP00000496203.1:p.Asp565His
ENST00000647168.2:c.*990G>C (CACNB2)	ENSP00000495854.2:n.*990G>C
ENST00000650685.1:c.1591G>C (CACNB2)	ENSP00000498460.1:p.Asp531His
ENST00000651330.1:c.*1123G>C (CACNB2)	ENSP00000498457.1:n.*1123G>C
ENST00000651468.1:c.1406G>C (CACNB2)	ENSP00000498352.1:n.1406G>C
ENST00000651928.1:c.*1088G>C (CACNB2)	ENSP00000499177.1:n.*1088G>C
ENST00000652391.1:c.1669G>C (CACNB2)	ENSP00000498938.1:p.Asp557His
ENST00000652478.1:c.*949G>C (CACNB2)	ENSP00000498812.1:n.*949G>C
ENST00000282343.12:c.1765G>C (CACNB2)	ENSP00000282343.8:p.Asp589His
ENST00000324631.11:c.1849G>C (CACNB2)	ENSP00000320025.7:p.Asp617His
ENST00000352115.10:c.1777G>C (CACNB2)	ENSP00000344474.6:p.Asp593His
ENST00000377315.4:c.1705G>C (CACNB2)	ENSP00000366532.4:p.Asp569His
ENST00000377319.7:c.1570G>C (CACNB2)	ENSP00000366536.3:p.Asp524His
ENST00000377328.5:c.1099G>C (CACNB2)	ENSP00000366545.1:p.Asp367His
ENST00000377329.8:c.1687G>C (CACNB2)	ENSP00000366546.4:p.Asp563His
ENST00000377331.6:c.1693G>C (CACNB2)	ENSP00000366548.2:p.Asp565His
ENST00000396576.6:c.1684G>C (CACNB2)	ENSP00000379821.2:p.Asp562His
ENST00000612134.4:c.1553G>C (CACNB2)	ENSP00000480563.1:n.1553G>C
ENST00000612743.1:c.361G>C (CACNB2)	ENSP00000478676.1:p.Asp121His
ENST00000615785.4:c.934G>C (CACNB2)	ENSP00000480260.1:p.Asp312His
ENST00000617363.4:c.1612G>C (CACNB2)	ENSP00000479756.1:p.Asp538His
NM_000724.3:c.1684G>C (CACNB2)	NP_000715.2:p.Asp562His
NM_001167945.1:c.1651G>C (CACNB2)	NP_001161417.1:p.Asp551His
NM_201570.2:c.1705G>C (CACNB2)	NP_963864.1:p.Asp569His
NM_201571.3:c.1765G>C (CACNB2)	NP_963865.2:p.Asp589His
NM_201572.3:c.1693G>C (CACNB2)	NP_963866.2:p.Asp565His
NM_201590.2:c.1687G>C (CACNB2)	NP_963884.2:p.Asp563His
NM_201593.2:c.1735G>C (CACNB2)	NP_963887.2:p.Asp579His
NM_201596.2:c.1849G>C (CACNB2)	NP_963890.2:p.Asp617His
NM_201597.2:c.1777G>C (CACNB2)	NP_963891.1:p.Asp593His
XM_005252588.2:c.1591G>C (CACNB2)	XP_005252645.1:p.Asp531His
XM_005252591.2:c.1009G>C (CACNB2)	XP_005252648.1:p.Asp337His
XM_006717502.2:c.1669G>C (CACNB2)	XP_006717565.1:p.Asp557His
XM_011519659.1:c.1615G>C (CACNB2)	XP_011517961.1:p.Asp539His
XM_011519660.1:c.1570G>C (CACNB2)	XP_011517962.1:p.Asp524His
NM_001330060.1:c.1570G>C (CACNB2)	NP_001316989.1:p.Asp524His
XM_005252588.4:c.1591G>C (CACNB2)	XP_005252645.1:p.Asp531His
XM_005252591.3:c.1009G>C (CACNB2)	XP_005252648.1:p.Asp337His
XM_006717502.3:c.1669G>C (CACNB2)	XP_006717565.1:p.Asp557His
XM_011519659.2:c.1615G>C (CACNB2)	XP_011517961.1:p.Asp539His
XM_017016625.1:c.1009G>C (CACNB2)	XP_016872114.1:p.Asp337His
XR_001747060.1:n.2423+2479C>G (NSUN6)
XR_001747198.1:n.1974G>C (CACNB2)
NM_000724.4:c.1684G>C (CACNB2)	NP_000715.2:p.Asp562His
NM_001167945.2:c.1651G>C (CACNB2)	NP_001161417.1:p.Asp551His
NM_001330060.2:c.1570G>C (CACNB2)	NP_001316989.1:p.Asp524His
NM_201570.3:c.1705G>C (CACNB2)	NP_963864.1:p.Asp569His
NM_201571.4:c.1765G>C (CACNB2)	NP_963865.2:p.Asp589His
NM_201572.4:c.1693G>C (CACNB2)	NP_963866.2:p.Asp565His
NM_201590.3:c.1687G>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp563His
NM_201593.3:c.1735G>C (CACNB2)	NP_963887.2:p.Asp579His
NM_201596.3:c.1849G>C (CACNB2) MANE Select	NP_963890.2:p.Asp617His
NM_201597.3:c.1777G>C (CACNB2)	NP_963891.1:p.Asp593His