Canonical Allele Identifier: CA2786836047

Gene: CACNB2 NSUN6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539355_18539356insACCCAA , CM000672.2:g.18539355_18539356insACCCAA	GRCh38
NC_000010.10:g.18828284_18828285insACCCAA , CM000672.1:g.18828284_18828285insACCCAA	GRCh37
NC_000010.9:g.18868290_18868291insACCCAA	NCBI36
NG_016195.1:g.403679_403680insACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1470_1471insACCCAA (CACNB2)	ENSP00000366532.4:p.His490_His491insThrGln
ENST00000377319.9:c.1335_1336insACCCAA (CACNB2)	ENSP00000366536.3:p.His445_His446insThrGln
ENST00000645287.2:c.1458_1459insACCCAA (CACNB2)	ENSP00000496203.1:p.His486_His487insThrGln
ENST00000282343.13:c.1530_1531insACCCAA (CACNB2)	ENSP00000282343.8:p.His510_His511insThrGln
ENST00000324631.13:c.1614_1615insACCCAA (CACNB2) MANE Select	ENSP00000320025.8:p.His538_His539insThrGln
ENST00000377315.5:c.1470_1471insACCCAA (CACNB2)	ENSP00000366532.4:p.His490_His491insThrGln
ENST00000377319.8:c.1335_1336insACCCAA (CACNB2)	ENSP00000366536.3:p.His445_His446insThrGln
ENST00000377329.10:c.1452_1453insACCCAA (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His484_His485insThrGln
ENST00000377331.8:c.1239_1240insACCCAA (CACNB2)	ENSP00000366548.4:p.His413_His414insThrGln
ENST00000643096.2:c.1416_1417insACCCAA (CACNB2)	ENSP00000494209.2:p.His472_His473insThrGln
ENST00000645287.1:c.1458_1459insACCCAA (CACNB2)	ENSP00000496203.1:p.His486_His487insThrGln
ENST00000647168.2:c.*755_*756insACCCAA (CACNB2)	ENSP00000495854.2:n.*755_*756insACCCAA
ENST00000650685.1:c.1356_1357insACCCAA (CACNB2)	ENSP00000498460.1:p.His452_His453insThrGln
ENST00000651330.1:c.*888_*889insACCCAA (CACNB2)	ENSP00000498457.1:n.*888_*889insACCCAA
ENST00000651468.1:c.1171_1172insACCCAA (CACNB2)	ENSP00000498352.1:n.1171_1172insACCCAA
ENST00000651928.1:c.*853_*854insACCCAA (CACNB2)	ENSP00000499177.1:n.*853_*854insACCCAA
ENST00000652391.1:c.1434_1435insACCCAA (CACNB2)	ENSP00000498938.1:p.His478_His479insThrGln
ENST00000652478.1:c.*714_*715insACCCAA (CACNB2)	ENSP00000498812.1:n.*714_*715insACCCAA
ENST00000282343.12:c.1530_1531insACCCAA (CACNB2)	ENSP00000282343.8:p.His510_His511insThrGln
ENST00000324631.11:c.1614_1615insACCCAA (CACNB2)	ENSP00000320025.7:p.His538_His539insThrGln
ENST00000352115.10:c.1542_1543insACCCAA (CACNB2)	ENSP00000344474.6:p.His514_His515insThrGln
ENST00000377315.4:c.1470_1471insACCCAA (CACNB2)	ENSP00000366532.4:p.His490_His491insThrGln
ENST00000377319.7:c.1335_1336insACCCAA (CACNB2)	ENSP00000366536.3:p.His445_His446insThrGln
ENST00000377328.5:c.864_865insACCCAA (CACNB2)	ENSP00000366545.1:p.His288_His289insThrGln
ENST00000377329.8:c.1452_1453insACCCAA (CACNB2)	ENSP00000366546.4:p.His484_His485insThrGln
ENST00000377331.6:c.1458_1459insACCCAA (CACNB2)	ENSP00000366548.2:p.His486_His487insThrGln
ENST00000396576.6:c.1449_1450insACCCAA (CACNB2)	ENSP00000379821.2:p.His483_His484insThrGln
ENST00000612134.4:c.1318_1319insACCCAA (CACNB2)	ENSP00000480563.1:n.1318_1319insACCCAA
ENST00000612743.1:c.126_127insACCCAA (CACNB2)	ENSP00000478676.1:p.His42_His43insThrGln
ENST00000615785.4:c.699_700insACCCAA (CACNB2)	ENSP00000480260.1:p.His233_His234insThrGln
ENST00000617363.4:c.1377_1378insACCCAA (CACNB2)	ENSP00000479756.1:p.His459_His460insThrGln
NM_000724.3:c.1449_1450insACCCAA (CACNB2)	NP_000715.2:p.His483_His484insThrGln
NM_001167945.1:c.1416_1417insACCCAA (CACNB2)	NP_001161417.1:p.His472_His473insThrGln
NM_201570.2:c.1470_1471insACCCAA (CACNB2)	NP_963864.1:p.His490_His491insThrGln
NM_201571.3:c.1530_1531insACCCAA (CACNB2)	NP_963865.2:p.His510_His511insThrGln
NM_201572.3:c.1458_1459insACCCAA (CACNB2)	NP_963866.2:p.His486_His487insThrGln
NM_201590.2:c.1452_1453insACCCAA (CACNB2)	NP_963884.2:p.His484_His485insThrGln
NM_201593.2:c.1500_1501insACCCAA (CACNB2)	NP_963887.2:p.His500_His501insThrGln
NM_201596.2:c.1614_1615insACCCAA (CACNB2)	NP_963890.2:p.His538_His539insThrGln
NM_201597.2:c.1542_1543insACCCAA (CACNB2)	NP_963891.1:p.His514_His515insThrGln
XM_005252588.2:c.1356_1357insACCCAA (CACNB2)	XP_005252645.1:p.His452_His453insThrGln
XM_005252591.2:c.774_775insACCCAA (CACNB2)	XP_005252648.1:p.His258_His259insThrGln
XM_006717502.2:c.1434_1435insACCCAA (CACNB2)	XP_006717565.1:p.His478_His479insThrGln
XM_011519659.1:c.1380_1381insACCCAA (CACNB2)	XP_011517961.1:p.His460_His461insThrGln
XM_011519660.1:c.1335_1336insACCCAA (CACNB2)	XP_011517962.1:p.His445_His446insThrGln
NM_001330060.1:c.1335_1336insACCCAA (CACNB2)	NP_001316989.1:p.His445_His446insThrGln
XM_005252588.4:c.1356_1357insACCCAA (CACNB2)	XP_005252645.1:p.His452_His453insThrGln
XM_005252591.3:c.774_775insACCCAA (CACNB2)	XP_005252648.1:p.His258_His259insThrGln
XM_006717502.3:c.1434_1435insACCCAA (CACNB2)	XP_006717565.1:p.His478_His479insThrGln
XM_011519659.2:c.1380_1381insACCCAA (CACNB2)	XP_011517961.1:p.His460_His461insThrGln
XM_017016625.1:c.774_775insACCCAA (CACNB2)	XP_016872114.1:p.His258_His259insThrGln
XR_001747060.1:n.2423+2713_2423+2714insTTGGGT (NSUN6)
XR_001747198.1:n.1739_1740insACCCAA (CACNB2)
NM_000724.4:c.1449_1450insACCCAA (CACNB2)	NP_000715.2:p.His483_His484insThrGln
NM_001167945.2:c.1416_1417insACCCAA (CACNB2)	NP_001161417.1:p.His472_His473insThrGln
NM_001330060.2:c.1335_1336insACCCAA (CACNB2)	NP_001316989.1:p.His445_His446insThrGln
NM_201570.3:c.1470_1471insACCCAA (CACNB2)	NP_963864.1:p.His490_His491insThrGln
NM_201571.4:c.1530_1531insACCCAA (CACNB2)	NP_963865.2:p.His510_His511insThrGln
NM_201572.4:c.1458_1459insACCCAA (CACNB2)	NP_963866.2:p.His486_His487insThrGln
NM_201590.3:c.1452_1453insACCCAA (CACNB2) MANE Plus Clinical	NP_963884.2:p.His484_His485insThrGln
NM_201593.3:c.1500_1501insACCCAA (CACNB2)	NP_963887.2:p.His500_His501insThrGln
NM_201596.3:c.1614_1615insACCCAA (CACNB2) MANE Select	NP_963890.2:p.His538_His539insThrGln
NM_201597.3:c.1542_1543insACCCAA (CACNB2)	NP_963891.1:p.His514_His515insThrGln