Canonical Allele Identifier: CA376071989

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 2145328
• ClinVar RCV Id: RCV003071387
• gnomAD v4: 10-18539485-T-C
• MyVariant Identifiers: chr10:g.18828414T>C (hg19) ; chr10:g.18539485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539485T>C , CM000672.2:g.18539485T>C	GRCh38
NC_000010.10:g.18828414T>C , CM000672.1:g.18828414T>C	GRCh37
NC_000010.9:g.18868420T>C	NCBI36
NG_016195.1:g.403809T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1600T>C (CACNB2)	ENSP00000366532.4:p.Tyr534His
ENST00000377319.9:c.1465T>C (CACNB2)	ENSP00000366536.3:p.Tyr489His
ENST00000645287.2:c.1588T>C (CACNB2)	ENSP00000496203.1:p.Tyr530His
ENST00000282343.13:c.1660T>C (CACNB2)	ENSP00000282343.8:p.Tyr554His
ENST00000324631.13:c.1744T>C (CACNB2) MANE Select	ENSP00000320025.8:p.Tyr582His
ENST00000377315.5:c.1600T>C (CACNB2)	ENSP00000366532.4:p.Tyr534His
ENST00000377319.8:c.1465T>C (CACNB2)	ENSP00000366536.3:p.Tyr489His
ENST00000377329.10:c.1582T>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Tyr528His
ENST00000377331.8:c.1369T>C (CACNB2)	ENSP00000366548.4:p.Tyr457His
ENST00000643096.2:c.1546T>C (CACNB2)	ENSP00000494209.2:p.Tyr516His
ENST00000645287.1:c.1588T>C (CACNB2)	ENSP00000496203.1:p.Tyr530His
ENST00000647168.2:c.*885T>C (CACNB2)	ENSP00000495854.2:n.*885T>C
ENST00000650685.1:c.1486T>C (CACNB2)	ENSP00000498460.1:p.Tyr496His
ENST00000651330.1:c.*1018T>C (CACNB2)	ENSP00000498457.1:n.*1018T>C
ENST00000651468.1:c.1301T>C (CACNB2)	ENSP00000498352.1:n.1301T>C
ENST00000651928.1:c.*983T>C (CACNB2)	ENSP00000499177.1:n.*983T>C
ENST00000652391.1:c.1564T>C (CACNB2)	ENSP00000498938.1:p.Tyr522His
ENST00000652478.1:c.*844T>C (CACNB2)	ENSP00000498812.1:n.*844T>C
ENST00000282343.12:c.1660T>C (CACNB2)	ENSP00000282343.8:p.Tyr554His
ENST00000324631.11:c.1744T>C (CACNB2)	ENSP00000320025.7:p.Tyr582His
ENST00000352115.10:c.1672T>C (CACNB2)	ENSP00000344474.6:p.Tyr558His
ENST00000377315.4:c.1600T>C (CACNB2)	ENSP00000366532.4:p.Tyr534His
ENST00000377319.7:c.1465T>C (CACNB2)	ENSP00000366536.3:p.Tyr489His
ENST00000377328.5:c.994T>C (CACNB2)	ENSP00000366545.1:p.Tyr332His
ENST00000377329.8:c.1582T>C (CACNB2)	ENSP00000366546.4:p.Tyr528His
ENST00000377331.6:c.1588T>C (CACNB2)	ENSP00000366548.2:p.Tyr530His
ENST00000396576.6:c.1579T>C (CACNB2)	ENSP00000379821.2:p.Tyr527His
ENST00000612134.4:c.1448T>C (CACNB2)	ENSP00000480563.1:n.1448T>C
ENST00000612743.1:c.256T>C (CACNB2)	ENSP00000478676.1:p.Tyr86His
ENST00000615785.4:c.829T>C (CACNB2)	ENSP00000480260.1:p.Tyr277His
ENST00000617363.4:c.1507T>C (CACNB2)	ENSP00000479756.1:p.Tyr503His
NM_000724.3:c.1579T>C (CACNB2)	NP_000715.2:p.Tyr527His
NM_001167945.1:c.1546T>C (CACNB2)	NP_001161417.1:p.Tyr516His
NM_201570.2:c.1600T>C (CACNB2)	NP_963864.1:p.Tyr534His
NM_201571.3:c.1660T>C (CACNB2)	NP_963865.2:p.Tyr554His
NM_201572.3:c.1588T>C (CACNB2)	NP_963866.2:p.Tyr530His
NM_201590.2:c.1582T>C (CACNB2)	NP_963884.2:p.Tyr528His
NM_201593.2:c.1630T>C (CACNB2)	NP_963887.2:p.Tyr544His
NM_201596.2:c.1744T>C (CACNB2)	NP_963890.2:p.Tyr582His
NM_201597.2:c.1672T>C (CACNB2)	NP_963891.1:p.Tyr558His
XM_005252588.2:c.1486T>C (CACNB2)	XP_005252645.1:p.Tyr496His
XM_005252591.2:c.904T>C (CACNB2)	XP_005252648.1:p.Tyr302His
XM_006717502.2:c.1564T>C (CACNB2)	XP_006717565.1:p.Tyr522His
XM_011519659.1:c.1510T>C (CACNB2)	XP_011517961.1:p.Tyr504His
XM_011519660.1:c.1465T>C (CACNB2)	XP_011517962.1:p.Tyr489His
NM_001330060.1:c.1465T>C (CACNB2)	NP_001316989.1:p.Tyr489His
XM_005252588.4:c.1486T>C (CACNB2)	XP_005252645.1:p.Tyr496His
XM_005252591.3:c.904T>C (CACNB2)	XP_005252648.1:p.Tyr302His
XM_006717502.3:c.1564T>C (CACNB2)	XP_006717565.1:p.Tyr522His
XM_011519659.2:c.1510T>C (CACNB2)	XP_011517961.1:p.Tyr504His
XM_017016625.1:c.904T>C (CACNB2)	XP_016872114.1:p.Tyr302His
XR_001747060.1:n.2423+2584A>G (NSUN6)
XR_001747198.1:n.1869T>C (CACNB2)
NM_000724.4:c.1579T>C (CACNB2)	NP_000715.2:p.Tyr527His
NM_001167945.2:c.1546T>C (CACNB2)	NP_001161417.1:p.Tyr516His
NM_001330060.2:c.1465T>C (CACNB2)	NP_001316989.1:p.Tyr489His
NM_201570.3:c.1600T>C (CACNB2)	NP_963864.1:p.Tyr534His
NM_201571.4:c.1660T>C (CACNB2)	NP_963865.2:p.Tyr554His
NM_201572.4:c.1588T>C (CACNB2)	NP_963866.2:p.Tyr530His
NM_201590.3:c.1582T>C (CACNB2) MANE Plus Clinical	NP_963884.2:p.Tyr528His
NM_201593.3:c.1630T>C (CACNB2)	NP_963887.2:p.Tyr544His
NM_201596.3:c.1744T>C (CACNB2) MANE Select	NP_963890.2:p.Tyr582His
NM_201597.3:c.1672T>C (CACNB2)	NP_963891.1:p.Tyr558His