Canonical Allele Identifier: CA2608435624
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539424_18539426dup , CM000672.2:g.18539424_18539426dup GRCh38
NC_000010.10:g.18828353_18828355dup , CM000672.1:g.18828353_18828355dup GRCh37
NC_000010.9:g.18868359_18868361dup NCBI36
NG_016195.1:g.403748_403750dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1539_1541dup (CACNB2) ENSP00000366532.4:p.Glu513_Ser514insArg
ENST00000377319.9:c.1404_1406dup (CACNB2) ENSP00000366536.3:p.Glu468_Ser469insArg
ENST00000645287.2:c.1527_1529dup (CACNB2) ENSP00000496203.1:p.Glu509_Ser510insArg
ENST00000282343.13:c.1599_1601dup (CACNB2) ENSP00000282343.8:p.Glu533_Ser534insArg
ENST00000324631.13:c.1683_1685dup (CACNB2) MANE Select ENSP00000320025.8:p.Glu561_Ser562insArg
ENST00000377315.5:c.1539_1541dup (CACNB2) ENSP00000366532.4:p.Glu513_Ser514insArg
ENST00000377319.8:c.1404_1406dup (CACNB2) ENSP00000366536.3:p.Glu468_Ser469insArg
ENST00000377329.10:c.1521_1523dup (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Glu507_Ser508insArg
ENST00000377331.8:c.1308_1310dup (CACNB2) ENSP00000366548.4:p.Glu436_Ser437insArg
ENST00000643096.2:c.1485_1487dup (CACNB2) ENSP00000494209.2:p.Glu495_Ser496insArg
ENST00000645287.1:c.1527_1529dup (CACNB2) ENSP00000496203.1:p.Glu509_Ser510insArg
ENST00000647168.2:c.*824_*826dup (CACNB2) ENSP00000495854.2:n.*824_*826dup
ENST00000650685.1:c.1425_1427dup (CACNB2) ENSP00000498460.1:p.Glu475_Ser476insArg
ENST00000651330.1:c.*957_*959dup (CACNB2) ENSP00000498457.1:n.*957_*959dup
ENST00000651468.1:c.1240_1242dup (CACNB2) ENSP00000498352.1:n.1240_1242dup
ENST00000651928.1:c.*922_*924dup (CACNB2) ENSP00000499177.1:n.*922_*924dup
ENST00000652391.1:c.1503_1505dup (CACNB2) ENSP00000498938.1:p.Glu501_Ser502insArg
ENST00000652478.1:c.*783_*785dup (CACNB2) ENSP00000498812.1:n.*783_*785dup
ENST00000282343.12:c.1599_1601dup (CACNB2) ENSP00000282343.8:p.Glu533_Ser534insArg
ENST00000324631.11:c.1683_1685dup (CACNB2) ENSP00000320025.7:p.Glu561_Ser562insArg
ENST00000352115.10:c.1611_1613dup (CACNB2) ENSP00000344474.6:p.Glu537_Ser538insArg
ENST00000377315.4:c.1539_1541dup (CACNB2) ENSP00000366532.4:p.Glu513_Ser514insArg
ENST00000377319.7:c.1404_1406dup (CACNB2) ENSP00000366536.3:p.Glu468_Ser469insArg
ENST00000377328.5:c.933_935dup (CACNB2) ENSP00000366545.1:p.Glu311_Ser312insArg
ENST00000377329.8:c.1521_1523dup (CACNB2) ENSP00000366546.4:p.Glu507_Ser508insArg
ENST00000377331.6:c.1527_1529dup (CACNB2) ENSP00000366548.2:p.Glu509_Ser510insArg
ENST00000396576.6:c.1518_1520dup (CACNB2) ENSP00000379821.2:p.Glu506_Ser507insArg
ENST00000612134.4:c.1387_1389dup (CACNB2) ENSP00000480563.1:n.1387_1389dup
ENST00000612743.1:c.195_197dup (CACNB2) ENSP00000478676.1:p.Glu65_Ser66insArg
ENST00000615785.4:c.768_770dup (CACNB2) ENSP00000480260.1:p.Glu256_Ser257insArg
ENST00000617363.4:c.1446_1448dup (CACNB2) ENSP00000479756.1:p.Glu482_Ser483insArg
NM_000724.3:c.1518_1520dup (CACNB2) NP_000715.2:p.Glu506_Ser507insArg
NM_001167945.1:c.1485_1487dup (CACNB2) NP_001161417.1:p.Glu495_Ser496insArg
NM_201570.2:c.1539_1541dup (CACNB2) NP_963864.1:p.Glu513_Ser514insArg
NM_201571.3:c.1599_1601dup (CACNB2) NP_963865.2:p.Glu533_Ser534insArg
NM_201572.3:c.1527_1529dup (CACNB2) NP_963866.2:p.Glu509_Ser510insArg
NM_201590.2:c.1521_1523dup (CACNB2) NP_963884.2:p.Glu507_Ser508insArg
NM_201593.2:c.1569_1571dup (CACNB2) NP_963887.2:p.Glu523_Ser524insArg
NM_201596.2:c.1683_1685dup (CACNB2) NP_963890.2:p.Glu561_Ser562insArg
NM_201597.2:c.1611_1613dup (CACNB2) NP_963891.1:p.Glu537_Ser538insArg
XM_005252588.2:c.1425_1427dup (CACNB2) XP_005252645.1:p.Glu475_Ser476insArg
XM_005252591.2:c.843_845dup (CACNB2) XP_005252648.1:p.Glu281_Ser282insArg
XM_006717502.2:c.1503_1505dup (CACNB2) XP_006717565.1:p.Glu501_Ser502insArg
XM_011519659.1:c.1449_1451dup (CACNB2) XP_011517961.1:p.Glu483_Ser484insArg
XM_011519660.1:c.1404_1406dup (CACNB2) XP_011517962.1:p.Glu468_Ser469insArg
NM_001330060.1:c.1404_1406dup (CACNB2) NP_001316989.1:p.Glu468_Ser469insArg
XM_005252588.4:c.1425_1427dup (CACNB2) XP_005252645.1:p.Glu475_Ser476insArg
XM_005252591.3:c.843_845dup (CACNB2) XP_005252648.1:p.Glu281_Ser282insArg
XM_006717502.3:c.1503_1505dup (CACNB2) XP_006717565.1:p.Glu501_Ser502insArg
XM_011519659.2:c.1449_1451dup (CACNB2) XP_011517961.1:p.Glu483_Ser484insArg
XM_017016625.1:c.843_845dup (CACNB2) XP_016872114.1:p.Glu281_Ser282insArg
XR_001747060.1:n.2423+2643_2423+2645dup (NSUN6)
XR_001747198.1:n.1808_1810dup (CACNB2)
NM_000724.4:c.1518_1520dup (CACNB2) NP_000715.2:p.Glu506_Ser507insArg
NM_001167945.2:c.1485_1487dup (CACNB2) NP_001161417.1:p.Glu495_Ser496insArg
NM_001330060.2:c.1404_1406dup (CACNB2) NP_001316989.1:p.Glu468_Ser469insArg
NM_201570.3:c.1539_1541dup (CACNB2) NP_963864.1:p.Glu513_Ser514insArg
NM_201571.4:c.1599_1601dup (CACNB2) NP_963865.2:p.Glu533_Ser534insArg
NM_201572.4:c.1527_1529dup (CACNB2) NP_963866.2:p.Glu509_Ser510insArg
NM_201590.3:c.1521_1523dup (CACNB2) MANE Plus Clinical NP_963884.2:p.Glu507_Ser508insArg
NM_201593.3:c.1569_1571dup (CACNB2) NP_963887.2:p.Glu523_Ser524insArg
NM_201596.3:c.1683_1685dup (CACNB2) MANE Select NP_963890.2:p.Glu561_Ser562insArg
NM_201597.3:c.1611_1613dup (CACNB2) NP_963891.1:p.Glu537_Ser538insArg