Canonical Allele Identifier: CA1894173217

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs2053922615
• gnomAD v4: 10-18539368-A-AGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539370_18539373dup , CM000672.2:g.18539370_18539373dup	GRCh38
NC_000010.10:g.18828299_18828302dup , CM000672.1:g.18828299_18828302dup	GRCh37
NC_000010.9:g.18868305_18868308dup	NCBI36
NG_016195.1:g.403694_403697dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1485_1488dup (CACNB2)	ENSP00000366532.4:p.Thr497TrpfsTer13
ENST00000377319.9:c.1350_1353dup (CACNB2)	ENSP00000366536.3:p.Thr452TrpfsTer13
ENST00000645287.2:c.1473_1476dup (CACNB2)	ENSP00000496203.1:p.Thr493TrpfsTer13
ENST00000282343.13:c.1545_1548dup (CACNB2)	ENSP00000282343.8:p.Thr517TrpfsTer13
ENST00000324631.13:c.1629_1632dup (CACNB2) MANE Select	ENSP00000320025.8:p.Thr545TrpfsTer13
ENST00000377315.5:c.1485_1488dup (CACNB2)	ENSP00000366532.4:p.Thr497TrpfsTer13
ENST00000377319.8:c.1350_1353dup (CACNB2)	ENSP00000366536.3:p.Thr452TrpfsTer13
ENST00000377329.10:c.1467_1470dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Thr491TrpfsTer13
ENST00000377331.8:c.1254_1257dup (CACNB2)	ENSP00000366548.4:p.Thr420TrpfsTer13
ENST00000643096.2:c.1431_1434dup (CACNB2)	ENSP00000494209.2:p.Thr479TrpfsTer13
ENST00000645287.1:c.1473_1476dup (CACNB2)	ENSP00000496203.1:p.Thr493TrpfsTer13
ENST00000647168.2:c.*770_*773dup (CACNB2)	ENSP00000495854.2:n.*770_*773dup
ENST00000650685.1:c.1371_1374dup (CACNB2)	ENSP00000498460.1:p.Thr459TrpfsTer13
ENST00000651330.1:c.*903_*906dup (CACNB2)	ENSP00000498457.1:n.*903_*906dup
ENST00000651468.1:c.1186_1189dup (CACNB2)	ENSP00000498352.1:n.1186_1189dup
ENST00000651928.1:c.*868_*871dup (CACNB2)	ENSP00000499177.1:n.*868_*871dup
ENST00000652391.1:c.1449_1452dup (CACNB2)	ENSP00000498938.1:p.Thr485TrpfsTer13
ENST00000652478.1:c.*729_*732dup (CACNB2)	ENSP00000498812.1:n.*729_*732dup
ENST00000282343.12:c.1545_1548dup (CACNB2)	ENSP00000282343.8:p.Thr517TrpfsTer13
ENST00000324631.11:c.1629_1632dup (CACNB2)	ENSP00000320025.7:p.Thr545TrpfsTer13
ENST00000352115.10:c.1557_1560dup (CACNB2)	ENSP00000344474.6:p.Thr521TrpfsTer13
ENST00000377315.4:c.1485_1488dup (CACNB2)	ENSP00000366532.4:p.Thr497TrpfsTer13
ENST00000377319.7:c.1350_1353dup (CACNB2)	ENSP00000366536.3:p.Thr452TrpfsTer13
ENST00000377328.5:c.879_882dup (CACNB2)	ENSP00000366545.1:p.Thr295TrpfsTer13
ENST00000377329.8:c.1467_1470dup (CACNB2)	ENSP00000366546.4:p.Thr491TrpfsTer13
ENST00000377331.6:c.1473_1476dup (CACNB2)	ENSP00000366548.2:p.Thr493TrpfsTer13
ENST00000396576.6:c.1464_1467dup (CACNB2)	ENSP00000379821.2:p.Thr490TrpfsTer13
ENST00000612134.4:c.1333_1336dup (CACNB2)	ENSP00000480563.1:n.1333_1336dup
ENST00000612743.1:c.141_144dup (CACNB2)	ENSP00000478676.1:p.Thr49TrpfsTer13
ENST00000615785.4:c.714_717dup (CACNB2)	ENSP00000480260.1:p.Thr240TrpfsTer13
ENST00000617363.4:c.1392_1395dup (CACNB2)	ENSP00000479756.1:p.Thr466TrpfsTer13
NM_000724.3:c.1464_1467dup (CACNB2)	NP_000715.2:p.Thr490TrpfsTer13
NM_001167945.1:c.1431_1434dup (CACNB2)	NP_001161417.1:p.Thr479TrpfsTer13
NM_201570.2:c.1485_1488dup (CACNB2)	NP_963864.1:p.Thr497TrpfsTer13
NM_201571.3:c.1545_1548dup (CACNB2)	NP_963865.2:p.Thr517TrpfsTer13
NM_201572.3:c.1473_1476dup (CACNB2)	NP_963866.2:p.Thr493TrpfsTer13
NM_201590.2:c.1467_1470dup (CACNB2)	NP_963884.2:p.Thr491TrpfsTer13
NM_201593.2:c.1515_1518dup (CACNB2)	NP_963887.2:p.Thr507TrpfsTer13
NM_201596.2:c.1629_1632dup (CACNB2)	NP_963890.2:p.Thr545TrpfsTer13
NM_201597.2:c.1557_1560dup (CACNB2)	NP_963891.1:p.Thr521TrpfsTer13
XM_005252588.2:c.1371_1374dup (CACNB2)	XP_005252645.1:p.Thr459TrpfsTer13
XM_005252591.2:c.789_792dup (CACNB2)	XP_005252648.1:p.Thr265TrpfsTer13
XM_006717502.2:c.1449_1452dup (CACNB2)	XP_006717565.1:p.Thr485TrpfsTer13
XM_011519659.1:c.1395_1398dup (CACNB2)	XP_011517961.1:p.Thr467TrpfsTer13
XM_011519660.1:c.1350_1353dup (CACNB2)	XP_011517962.1:p.Thr452TrpfsTer13
NM_001330060.1:c.1350_1353dup (CACNB2)	NP_001316989.1:p.Thr452TrpfsTer13
XM_005252588.4:c.1371_1374dup (CACNB2)	XP_005252645.1:p.Thr459TrpfsTer13
XM_005252591.3:c.789_792dup (CACNB2)	XP_005252648.1:p.Thr265TrpfsTer13
XM_006717502.3:c.1449_1452dup (CACNB2)	XP_006717565.1:p.Thr485TrpfsTer13
XM_011519659.2:c.1395_1398dup (CACNB2)	XP_011517961.1:p.Thr467TrpfsTer13
XM_017016625.1:c.789_792dup (CACNB2)	XP_016872114.1:p.Thr265TrpfsTer13
XR_001747060.1:n.2423+2697_2423+2700dup (NSUN6)
XR_001747198.1:n.1754_1757dup (CACNB2)
NM_000724.4:c.1464_1467dup (CACNB2)	NP_000715.2:p.Thr490TrpfsTer13
NM_001167945.2:c.1431_1434dup (CACNB2)	NP_001161417.1:p.Thr479TrpfsTer13
NM_001330060.2:c.1350_1353dup (CACNB2)	NP_001316989.1:p.Thr452TrpfsTer13
NM_201570.3:c.1485_1488dup (CACNB2)	NP_963864.1:p.Thr497TrpfsTer13
NM_201571.4:c.1545_1548dup (CACNB2)	NP_963865.2:p.Thr517TrpfsTer13
NM_201572.4:c.1473_1476dup (CACNB2)	NP_963866.2:p.Thr493TrpfsTer13
NM_201590.3:c.1467_1470dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Thr491TrpfsTer13
NM_201593.3:c.1515_1518dup (CACNB2)	NP_963887.2:p.Thr507TrpfsTer13
NM_201596.3:c.1629_1632dup (CACNB2) MANE Select	NP_963890.2:p.Thr545TrpfsTer13
NM_201597.3:c.1557_1560dup (CACNB2)	NP_963891.1:p.Thr521TrpfsTer13