Canonical Allele Identifier: CA5430165

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs754910522
• ExAC: 10:18828440 CAG / C
• gnomAD v2: 10-18828440-CAG-C
• gnomAD v3: 10-18539511-CAG-C
• gnomAD v4: 10-18539511-CAG-C
• MyVariant Identifiers: chr10:g.18828441_18828442del (hg19) ; chr10:g.18539512_18539513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539515_18539516del , CM000672.2:g.18539515_18539516del	GRCh38
NC_000010.10:g.18828444_18828445del , CM000672.1:g.18828444_18828445del	GRCh37
NC_000010.9:g.18868450_18868451del	NCBI36
NG_016195.1:g.403839_403840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1630_1631del (CACNB2)	ENSP00000366532.4:p.Asp544ArgfsTer7
ENST00000377319.9:c.1495_1496del (CACNB2)	ENSP00000366536.3:p.Asp499ArgfsTer7
ENST00000645287.2:c.1618_1619del (CACNB2)	ENSP00000496203.1:p.Asp540ArgfsTer7
ENST00000282343.13:c.1690_1691del (CACNB2)	ENSP00000282343.8:p.Asp564ArgfsTer7
ENST00000324631.13:c.1774_1775del (CACNB2) MANE Select	ENSP00000320025.8:p.Asp592ArgfsTer7
ENST00000377315.5:c.1630_1631del (CACNB2)	ENSP00000366532.4:p.Asp544ArgfsTer7
ENST00000377319.8:c.1495_1496del (CACNB2)	ENSP00000366536.3:p.Asp499ArgfsTer7
ENST00000377329.10:c.1612_1613del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asp538ArgfsTer7
ENST00000377331.8:c.1399_1400del (CACNB2)	ENSP00000366548.4:p.Asp467ArgfsTer7
ENST00000643096.2:c.1576_1577del (CACNB2)	ENSP00000494209.2:p.Asp526ArgfsTer7
ENST00000645287.1:c.1618_1619del (CACNB2)	ENSP00000496203.1:p.Asp540ArgfsTer7
ENST00000647168.2:c.*915_*916del (CACNB2)	ENSP00000495854.2:n.*915_*916del
ENST00000650685.1:c.1516_1517del (CACNB2)	ENSP00000498460.1:p.Asp506ArgfsTer7
ENST00000651330.1:c.*1048_*1049del (CACNB2)	ENSP00000498457.1:n.*1048_*1049del
ENST00000651468.1:c.1331_1332del (CACNB2)	ENSP00000498352.1:n.1331_1332del
ENST00000651928.1:c.*1013_*1014del (CACNB2)	ENSP00000499177.1:n.*1013_*1014del
ENST00000652391.1:c.1594_1595del (CACNB2)	ENSP00000498938.1:p.Asp532ArgfsTer7
ENST00000652478.1:c.*874_*875del (CACNB2)	ENSP00000498812.1:n.*874_*875del
ENST00000282343.12:c.1690_1691del (CACNB2)	ENSP00000282343.8:p.Asp564ArgfsTer7
ENST00000324631.11:c.1774_1775del (CACNB2)	ENSP00000320025.7:p.Asp592ArgfsTer7
ENST00000352115.10:c.1702_1703del (CACNB2)	ENSP00000344474.6:p.Asp568ArgfsTer7
ENST00000377315.4:c.1630_1631del (CACNB2)	ENSP00000366532.4:p.Asp544ArgfsTer7
ENST00000377319.7:c.1495_1496del (CACNB2)	ENSP00000366536.3:p.Asp499ArgfsTer7
ENST00000377328.5:c.1024_1025del (CACNB2)	ENSP00000366545.1:p.Asp342ArgfsTer7
ENST00000377329.8:c.1612_1613del (CACNB2)	ENSP00000366546.4:p.Asp538ArgfsTer7
ENST00000377331.6:c.1618_1619del (CACNB2)	ENSP00000366548.2:p.Asp540ArgfsTer7
ENST00000396576.6:c.1609_1610del (CACNB2)	ENSP00000379821.2:p.Asp537ArgfsTer7
ENST00000612134.4:c.1478_1479del (CACNB2)	ENSP00000480563.1:n.1478_1479del
ENST00000612743.1:c.286_287del (CACNB2)	ENSP00000478676.1:p.Asp96ArgfsTer7
ENST00000615785.4:c.859_860del (CACNB2)	ENSP00000480260.1:p.Asp287ArgfsTer7
ENST00000617363.4:c.1537_1538del (CACNB2)	ENSP00000479756.1:p.Asp513ArgfsTer7
NM_000724.3:c.1609_1610del (CACNB2)	NP_000715.2:p.Asp537ArgfsTer7
NM_001167945.1:c.1576_1577del (CACNB2)	NP_001161417.1:p.Asp526ArgfsTer7
NM_201570.2:c.1630_1631del (CACNB2)	NP_963864.1:p.Asp544ArgfsTer7
NM_201571.3:c.1690_1691del (CACNB2)	NP_963865.2:p.Asp564ArgfsTer7
NM_201572.3:c.1618_1619del (CACNB2)	NP_963866.2:p.Asp540ArgfsTer7
NM_201590.2:c.1612_1613del (CACNB2)	NP_963884.2:p.Asp538ArgfsTer7
NM_201593.2:c.1660_1661del (CACNB2)	NP_963887.2:p.Asp554ArgfsTer7
NM_201596.2:c.1774_1775del (CACNB2)	NP_963890.2:p.Asp592ArgfsTer7
NM_201597.2:c.1702_1703del (CACNB2)	NP_963891.1:p.Asp568ArgfsTer7
XM_005252588.2:c.1516_1517del (CACNB2)	XP_005252645.1:p.Asp506ArgfsTer7
XM_005252591.2:c.934_935del (CACNB2)	XP_005252648.1:p.Asp312ArgfsTer7
XM_006717502.2:c.1594_1595del (CACNB2)	XP_006717565.1:p.Asp532ArgfsTer7
XM_011519659.1:c.1540_1541del (CACNB2)	XP_011517961.1:p.Asp514ArgfsTer7
XM_011519660.1:c.1495_1496del (CACNB2)	XP_011517962.1:p.Asp499ArgfsTer7
NM_001330060.1:c.1495_1496del (CACNB2)	NP_001316989.1:p.Asp499ArgfsTer7
XM_005252588.4:c.1516_1517del (CACNB2)	XP_005252645.1:p.Asp506ArgfsTer7
XM_005252591.3:c.934_935del (CACNB2)	XP_005252648.1:p.Asp312ArgfsTer7
XM_006717502.3:c.1594_1595del (CACNB2)	XP_006717565.1:p.Asp532ArgfsTer7
XM_011519659.2:c.1540_1541del (CACNB2)	XP_011517961.1:p.Asp514ArgfsTer7
XM_017016625.1:c.934_935del (CACNB2)	XP_016872114.1:p.Asp312ArgfsTer7
XR_001747060.1:n.2423+2556_2423+2557del (NSUN6)
XR_001747198.1:n.1899_1900del (CACNB2)
NM_000724.4:c.1609_1610del (CACNB2)	NP_000715.2:p.Asp537ArgfsTer7
NM_001167945.2:c.1576_1577del (CACNB2)	NP_001161417.1:p.Asp526ArgfsTer7
NM_001330060.2:c.1495_1496del (CACNB2)	NP_001316989.1:p.Asp499ArgfsTer7
NM_201570.3:c.1630_1631del (CACNB2)	NP_963864.1:p.Asp544ArgfsTer7
NM_201571.4:c.1690_1691del (CACNB2)	NP_963865.2:p.Asp564ArgfsTer7
NM_201572.4:c.1618_1619del (CACNB2)	NP_963866.2:p.Asp540ArgfsTer7
NM_201590.3:c.1612_1613del (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asp538ArgfsTer7
NM_201593.3:c.1660_1661del (CACNB2)	NP_963887.2:p.Asp554ArgfsTer7
NM_201596.3:c.1774_1775del (CACNB2) MANE Select	NP_963890.2:p.Asp592ArgfsTer7
NM_201597.3:c.1702_1703del (CACNB2)	NP_963891.1:p.Asp568ArgfsTer7