Canonical Allele Identifier: CA5430107

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs755732522
• ExAC: 10:18828281 ACAC / A
• gnomAD v2: 10-18828281-ACAC-A
• gnomAD v4: 10-18539352-ACAC-A
• MyVariant Identifiers: chr10:g.18828282_18828284del (hg19) ; chr10:g.18539353_18539355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539356_18539358del , CM000672.2:g.18539356_18539358del	GRCh38
NC_000010.10:g.18828285_18828287del , CM000672.1:g.18828285_18828287del	GRCh37
NC_000010.9:g.18868291_18868293del	NCBI36
NG_016195.1:g.403680_403682del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1471_1473del (CACNB2)	ENSP00000366532.4:p.His491del
ENST00000377319.9:c.1336_1338del (CACNB2)	ENSP00000366536.3:p.His446del
ENST00000645287.2:c.1459_1461del (CACNB2)	ENSP00000496203.1:p.His487del
ENST00000282343.13:c.1531_1533del (CACNB2)	ENSP00000282343.8:p.His511del
ENST00000324631.13:c.1615_1617del (CACNB2) MANE Select	ENSP00000320025.8:p.His539del
ENST00000377315.5:c.1471_1473del (CACNB2)	ENSP00000366532.4:p.His491del
ENST00000377319.8:c.1336_1338del (CACNB2)	ENSP00000366536.3:p.His446del
ENST00000377329.10:c.1453_1455del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His485del
ENST00000377331.8:c.1240_1242del (CACNB2)	ENSP00000366548.4:p.His414del
ENST00000643096.2:c.1417_1419del (CACNB2)	ENSP00000494209.2:p.His473del
ENST00000645287.1:c.1459_1461del (CACNB2)	ENSP00000496203.1:p.His487del
ENST00000647168.2:c.*756_*758del (CACNB2)	ENSP00000495854.2:n.*756_*758del
ENST00000650685.1:c.1357_1359del (CACNB2)	ENSP00000498460.1:p.His453del
ENST00000651330.1:c.*889_*891del (CACNB2)	ENSP00000498457.1:n.*889_*891del
ENST00000651468.1:c.1172_1174del (CACNB2)	ENSP00000498352.1:n.1172_1174del
ENST00000651928.1:c.*854_*856del (CACNB2)	ENSP00000499177.1:n.*854_*856del
ENST00000652391.1:c.1435_1437del (CACNB2)	ENSP00000498938.1:p.His479del
ENST00000652478.1:c.*715_*717del (CACNB2)	ENSP00000498812.1:n.*715_*717del
ENST00000282343.12:c.1531_1533del (CACNB2)	ENSP00000282343.8:p.His511del
ENST00000324631.11:c.1615_1617del (CACNB2)	ENSP00000320025.7:p.His539del
ENST00000352115.10:c.1543_1545del (CACNB2)	ENSP00000344474.6:p.His515del
ENST00000377315.4:c.1471_1473del (CACNB2)	ENSP00000366532.4:p.His491del
ENST00000377319.7:c.1336_1338del (CACNB2)	ENSP00000366536.3:p.His446del
ENST00000377328.5:c.865_867del (CACNB2)	ENSP00000366545.1:p.His289del
ENST00000377329.8:c.1453_1455del (CACNB2)	ENSP00000366546.4:p.His485del
ENST00000377331.6:c.1459_1461del (CACNB2)	ENSP00000366548.2:p.His487del
ENST00000396576.6:c.1450_1452del (CACNB2)	ENSP00000379821.2:p.His484del
ENST00000612134.4:c.1319_1321del (CACNB2)	ENSP00000480563.1:n.1319_1321del
ENST00000612743.1:c.127_129del (CACNB2)	ENSP00000478676.1:p.His43del
ENST00000615785.4:c.700_702del (CACNB2)	ENSP00000480260.1:p.His234del
ENST00000617363.4:c.1378_1380del (CACNB2)	ENSP00000479756.1:p.His460del
NM_000724.3:c.1450_1452del (CACNB2)	NP_000715.2:p.His484del
NM_001167945.1:c.1417_1419del (CACNB2)	NP_001161417.1:p.His473del
NM_201570.2:c.1471_1473del (CACNB2)	NP_963864.1:p.His491del
NM_201571.3:c.1531_1533del (CACNB2)	NP_963865.2:p.His511del
NM_201572.3:c.1459_1461del (CACNB2)	NP_963866.2:p.His487del
NM_201590.2:c.1453_1455del (CACNB2)	NP_963884.2:p.His485del
NM_201593.2:c.1501_1503del (CACNB2)	NP_963887.2:p.His501del
NM_201596.2:c.1615_1617del (CACNB2)	NP_963890.2:p.His539del
NM_201597.2:c.1543_1545del (CACNB2)	NP_963891.1:p.His515del
XM_005252588.2:c.1357_1359del (CACNB2)	XP_005252645.1:p.His453del
XM_005252591.2:c.775_777del (CACNB2)	XP_005252648.1:p.His259del
XM_006717502.2:c.1435_1437del (CACNB2)	XP_006717565.1:p.His479del
XM_011519659.1:c.1381_1383del (CACNB2)	XP_011517961.1:p.His461del
XM_011519660.1:c.1336_1338del (CACNB2)	XP_011517962.1:p.His446del
NM_001330060.1:c.1336_1338del (CACNB2)	NP_001316989.1:p.His446del
XM_005252588.4:c.1357_1359del (CACNB2)	XP_005252645.1:p.His453del
XM_005252591.3:c.775_777del (CACNB2)	XP_005252648.1:p.His259del
XM_006717502.3:c.1435_1437del (CACNB2)	XP_006717565.1:p.His479del
XM_011519659.2:c.1381_1383del (CACNB2)	XP_011517961.1:p.His461del
XM_017016625.1:c.775_777del (CACNB2)	XP_016872114.1:p.His259del
XR_001747060.1:n.2423+2714_2423+2716del (NSUN6)
XR_001747198.1:n.1740_1742del (CACNB2)
NM_000724.4:c.1450_1452del (CACNB2)	NP_000715.2:p.His484del
NM_001167945.2:c.1417_1419del (CACNB2)	NP_001161417.1:p.His473del
NM_001330060.2:c.1336_1338del (CACNB2)	NP_001316989.1:p.His446del
NM_201570.3:c.1471_1473del (CACNB2)	NP_963864.1:p.His491del
NM_201571.4:c.1531_1533del (CACNB2)	NP_963865.2:p.His511del
NM_201572.4:c.1459_1461del (CACNB2)	NP_963866.2:p.His487del
NM_201590.3:c.1453_1455del (CACNB2) MANE Plus Clinical	NP_963884.2:p.His485del
NM_201593.3:c.1501_1503del (CACNB2)	NP_963887.2:p.His501del
NM_201596.3:c.1615_1617del (CACNB2) MANE Select	NP_963890.2:p.His539del
NM_201597.3:c.1543_1545del (CACNB2)	NP_963891.1:p.His515del