Canonical Allele Identifier: CA592060484

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 2025995
• ClinVar RCV Id: RCV002880696
• dbSNP Id: rs1189218765
• gnomAD v2: 10-18828394-CCCATGACCACGTGGACCACTATGCCTCACA-C
• gnomAD v4: 10-18539465-CCCATGACCACGTGGACCACTATGCCTCACA-C
• MyVariant Identifiers: chr10:g.18828395_18828424del (hg19) ; chr10:g.18539466_18539495del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539468_18539497del , CM000672.2:g.18539468_18539497del	GRCh38
NC_000010.10:g.18828397_18828426del , CM000672.1:g.18828397_18828426del	GRCh37
NC_000010.9:g.18868403_18868432del	NCBI36
NG_016195.1:g.403792_403821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1583_1612del (CACNB2)	ENSP00000366532.4:p.His528_His537del
ENST00000377319.9:c.1448_1477del (CACNB2)	ENSP00000366536.3:p.His483_His492del
ENST00000645287.2:c.1571_1600del (CACNB2)	ENSP00000496203.1:p.His524_His533del
ENST00000282343.13:c.1643_1672del (CACNB2)	ENSP00000282343.8:p.His548_His557del
ENST00000324631.13:c.1727_1756del (CACNB2) MANE Select	ENSP00000320025.8:p.His576_His585del
ENST00000377315.5:c.1583_1612del (CACNB2)	ENSP00000366532.4:p.His528_His537del
ENST00000377319.8:c.1448_1477del (CACNB2)	ENSP00000366536.3:p.His483_His492del
ENST00000377329.10:c.1565_1594del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His522_His531del
ENST00000377331.8:c.1352_1381del (CACNB2)	ENSP00000366548.4:p.His451_His460del
ENST00000643096.2:c.1529_1558del (CACNB2)	ENSP00000494209.2:p.His510_His519del
ENST00000645287.1:c.1571_1600del (CACNB2)	ENSP00000496203.1:p.His524_His533del
ENST00000647168.2:c.*868_*897del (CACNB2)	ENSP00000495854.2:n.*868_*897del
ENST00000650685.1:c.1469_1498del (CACNB2)	ENSP00000498460.1:p.His490_His499del
ENST00000651330.1:c.*1001_*1030del (CACNB2)	ENSP00000498457.1:n.*1001_*1030del
ENST00000651468.1:c.1284_1313del (CACNB2)	ENSP00000498352.1:n.1284_1313del
ENST00000651928.1:c.*966_*995del (CACNB2)	ENSP00000499177.1:n.*966_*995del
ENST00000652391.1:c.1547_1576del (CACNB2)	ENSP00000498938.1:p.His516_His525del
ENST00000652478.1:c.*827_*856del (CACNB2)	ENSP00000498812.1:n.*827_*856del
ENST00000282343.12:c.1643_1672del (CACNB2)	ENSP00000282343.8:p.His548_His557del
ENST00000324631.11:c.1727_1756del (CACNB2)	ENSP00000320025.7:p.His576_His585del
ENST00000352115.10:c.1655_1684del (CACNB2)	ENSP00000344474.6:p.His552_His561del
ENST00000377315.4:c.1583_1612del (CACNB2)	ENSP00000366532.4:p.His528_His537del
ENST00000377319.7:c.1448_1477del (CACNB2)	ENSP00000366536.3:p.His483_His492del
ENST00000377328.5:c.977_1006del (CACNB2)	ENSP00000366545.1:p.His326_His335del
ENST00000377329.8:c.1565_1594del (CACNB2)	ENSP00000366546.4:p.His522_His531del
ENST00000377331.6:c.1571_1600del (CACNB2)	ENSP00000366548.2:p.His524_His533del
ENST00000396576.6:c.1562_1591del (CACNB2)	ENSP00000379821.2:p.His521_His530del
ENST00000612134.4:c.1431_1460del (CACNB2)	ENSP00000480563.1:n.1431_1460del
ENST00000612743.1:c.239_268del (CACNB2)	ENSP00000478676.1:p.His80_His89del
ENST00000615785.4:c.812_841del (CACNB2)	ENSP00000480260.1:p.His271_His280del
ENST00000617363.4:c.1490_1519del (CACNB2)	ENSP00000479756.1:p.His497_His506del
NM_000724.3:c.1562_1591del (CACNB2)	NP_000715.2:p.His521_His530del
NM_001167945.1:c.1529_1558del (CACNB2)	NP_001161417.1:p.His510_His519del
NM_201570.2:c.1583_1612del (CACNB2)	NP_963864.1:p.His528_His537del
NM_201571.3:c.1643_1672del (CACNB2)	NP_963865.2:p.His548_His557del
NM_201572.3:c.1571_1600del (CACNB2)	NP_963866.2:p.His524_His533del
NM_201590.2:c.1565_1594del (CACNB2)	NP_963884.2:p.His522_His531del
NM_201593.2:c.1613_1642del (CACNB2)	NP_963887.2:p.His538_His547del
NM_201596.2:c.1727_1756del (CACNB2)	NP_963890.2:p.His576_His585del
NM_201597.2:c.1655_1684del (CACNB2)	NP_963891.1:p.His552_His561del
XM_005252588.2:c.1469_1498del (CACNB2)	XP_005252645.1:p.His490_His499del
XM_005252591.2:c.887_916del (CACNB2)	XP_005252648.1:p.His296_His305del
XM_006717502.2:c.1547_1576del (CACNB2)	XP_006717565.1:p.His516_His525del
XM_011519659.1:c.1493_1522del (CACNB2)	XP_011517961.1:p.His498_His507del
XM_011519660.1:c.1448_1477del (CACNB2)	XP_011517962.1:p.His483_His492del
NM_001330060.1:c.1448_1477del (CACNB2)	NP_001316989.1:p.His483_His492del
XM_005252588.4:c.1469_1498del (CACNB2)	XP_005252645.1:p.His490_His499del
XM_005252591.3:c.887_916del (CACNB2)	XP_005252648.1:p.His296_His305del
XM_006717502.3:c.1547_1576del (CACNB2)	XP_006717565.1:p.His516_His525del
XM_011519659.2:c.1493_1522del (CACNB2)	XP_011517961.1:p.His498_His507del
XM_017016625.1:c.887_916del (CACNB2)	XP_016872114.1:p.His296_His305del
XR_001747060.1:n.2423+2574_2423+2603del (NSUN6)
XR_001747198.1:n.1852_1881del (CACNB2)
NM_000724.4:c.1562_1591del (CACNB2)	NP_000715.2:p.His521_His530del
NM_001167945.2:c.1529_1558del (CACNB2)	NP_001161417.1:p.His510_His519del
NM_001330060.2:c.1448_1477del (CACNB2)	NP_001316989.1:p.His483_His492del
NM_201570.3:c.1583_1612del (CACNB2)	NP_963864.1:p.His528_His537del
NM_201571.4:c.1643_1672del (CACNB2)	NP_963865.2:p.His548_His557del
NM_201572.4:c.1571_1600del (CACNB2)	NP_963866.2:p.His524_His533del
NM_201590.3:c.1565_1594del (CACNB2) MANE Plus Clinical	NP_963884.2:p.His522_His531del
NM_201593.3:c.1613_1642del (CACNB2)	NP_963887.2:p.His538_His547del
NM_201596.3:c.1727_1756del (CACNB2) MANE Select	NP_963890.2:p.His576_His585del
NM_201597.3:c.1655_1684del (CACNB2)	NP_963891.1:p.His552_His561del