Canonical Allele Identifier: CA5430159

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs753348190
• ExAC: 10:18828426 CGTGACCACAACCACAGAGACGAGACCCACGGGAGCA / C
• gnomAD v2: 10-18828426-CGTGACCACAACCACAGAGACGAGACCCACGGGAGCA-C
• gnomAD v4: 10-18539497-CGTGACCACAACCACAGAGACGAGACCCACGGGAGCA-C
• MyVariant Identifiers: chr10:g.18828427_18828462del (hg19) ; chr10:g.18539498_18539533del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539507_18539542del , CM000672.2:g.18539507_18539542del	GRCh38
NC_000010.10:g.18828436_18828471del , CM000672.1:g.18828436_18828471del	GRCh37
NC_000010.9:g.18868442_18868477del	NCBI36
NG_016195.1:g.403831_403866del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1622_1657del (CACNB2)	ENSP00000366532.4:p.Asn541_His552del
ENST00000377319.9:c.1487_1522del (CACNB2)	ENSP00000366536.3:p.Asn496_His507del
ENST00000645287.2:c.1610_1645del (CACNB2)	ENSP00000496203.1:p.Asn537_His548del
ENST00000282343.13:c.1682_1717del (CACNB2)	ENSP00000282343.8:p.Asn561_His572del
ENST00000324631.13:c.1766_1801del (CACNB2) MANE Select	ENSP00000320025.8:p.Asn589_His600del
ENST00000377315.5:c.1622_1657del (CACNB2)	ENSP00000366532.4:p.Asn541_His552del
ENST00000377319.8:c.1487_1522del (CACNB2)	ENSP00000366536.3:p.Asn496_His507del
ENST00000377329.10:c.1604_1639del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asn535_His546del
ENST00000377331.8:c.1391_1426del (CACNB2)	ENSP00000366548.4:p.Asn464_His475del
ENST00000643096.2:c.1568_1603del (CACNB2)	ENSP00000494209.2:p.Asn523_His534del
ENST00000645287.1:c.1610_1645del (CACNB2)	ENSP00000496203.1:p.Asn537_His548del
ENST00000647168.2:c.*907_*942del (CACNB2)	ENSP00000495854.2:n.*907_*942del
ENST00000650685.1:c.1508_1543del (CACNB2)	ENSP00000498460.1:p.Asn503_His514del
ENST00000651330.1:c.*1040_*1075del (CACNB2)	ENSP00000498457.1:n.*1040_*1075del
ENST00000651468.1:c.1323_1358del (CACNB2)	ENSP00000498352.1:n.1323_1358del
ENST00000651928.1:c.*1005_*1040del (CACNB2)	ENSP00000499177.1:n.*1005_*1040del
ENST00000652391.1:c.1586_1621del (CACNB2)	ENSP00000498938.1:p.Asn529_His540del
ENST00000652478.1:c.*866_*901del (CACNB2)	ENSP00000498812.1:n.*866_*901del
ENST00000282343.12:c.1682_1717del (CACNB2)	ENSP00000282343.8:p.Asn561_His572del
ENST00000324631.11:c.1766_1801del (CACNB2)	ENSP00000320025.7:p.Asn589_His600del
ENST00000352115.10:c.1694_1729del (CACNB2)	ENSP00000344474.6:p.Asn565_His576del
ENST00000377315.4:c.1622_1657del (CACNB2)	ENSP00000366532.4:p.Asn541_His552del
ENST00000377319.7:c.1487_1522del (CACNB2)	ENSP00000366536.3:p.Asn496_His507del
ENST00000377328.5:c.1016_1051del (CACNB2)	ENSP00000366545.1:p.Asn339_His350del
ENST00000377329.8:c.1604_1639del (CACNB2)	ENSP00000366546.4:p.Asn535_His546del
ENST00000377331.6:c.1610_1645del (CACNB2)	ENSP00000366548.2:p.Asn537_His548del
ENST00000396576.6:c.1601_1636del (CACNB2)	ENSP00000379821.2:p.Asn534_His545del
ENST00000612134.4:c.1470_1505del (CACNB2)	ENSP00000480563.1:n.1470_1505del
ENST00000612743.1:c.278_313del (CACNB2)	ENSP00000478676.1:p.Asn93_His104del
ENST00000615785.4:c.851_886del (CACNB2)	ENSP00000480260.1:p.Asn284_His295del
ENST00000617363.4:c.1529_1564del (CACNB2)	ENSP00000479756.1:p.Asn510_His521del
NM_000724.3:c.1601_1636del (CACNB2)	NP_000715.2:p.Asn534_His545del
NM_001167945.1:c.1568_1603del (CACNB2)	NP_001161417.1:p.Asn523_His534del
NM_201570.2:c.1622_1657del (CACNB2)	NP_963864.1:p.Asn541_His552del
NM_201571.3:c.1682_1717del (CACNB2)	NP_963865.2:p.Asn561_His572del
NM_201572.3:c.1610_1645del (CACNB2)	NP_963866.2:p.Asn537_His548del
NM_201590.2:c.1604_1639del (CACNB2)	NP_963884.2:p.Asn535_His546del
NM_201593.2:c.1652_1687del (CACNB2)	NP_963887.2:p.Asn551_His562del
NM_201596.2:c.1766_1801del (CACNB2)	NP_963890.2:p.Asn589_His600del
NM_201597.2:c.1694_1729del (CACNB2)	NP_963891.1:p.Asn565_His576del
XM_005252588.2:c.1508_1543del (CACNB2)	XP_005252645.1:p.Asn503_His514del
XM_005252591.2:c.926_961del (CACNB2)	XP_005252648.1:p.Asn309_His320del
XM_006717502.2:c.1586_1621del (CACNB2)	XP_006717565.1:p.Asn529_His540del
XM_011519659.1:c.1532_1567del (CACNB2)	XP_011517961.1:p.Asn511_His522del
XM_011519660.1:c.1487_1522del (CACNB2)	XP_011517962.1:p.Asn496_His507del
NM_001330060.1:c.1487_1522del (CACNB2)	NP_001316989.1:p.Asn496_His507del
XM_005252588.4:c.1508_1543del (CACNB2)	XP_005252645.1:p.Asn503_His514del
XM_005252591.3:c.926_961del (CACNB2)	XP_005252648.1:p.Asn309_His320del
XM_006717502.3:c.1586_1621del (CACNB2)	XP_006717565.1:p.Asn529_His540del
XM_011519659.2:c.1532_1567del (CACNB2)	XP_011517961.1:p.Asn511_His522del
XM_017016625.1:c.926_961del (CACNB2)	XP_016872114.1:p.Asn309_His320del
XR_001747060.1:n.2423+2536_2423+2571del (NSUN6)
XR_001747198.1:n.1891_1926del (CACNB2)
NM_000724.4:c.1601_1636del (CACNB2)	NP_000715.2:p.Asn534_His545del
NM_001167945.2:c.1568_1603del (CACNB2)	NP_001161417.1:p.Asn523_His534del
NM_001330060.2:c.1487_1522del (CACNB2)	NP_001316989.1:p.Asn496_His507del
NM_201570.3:c.1622_1657del (CACNB2)	NP_963864.1:p.Asn541_His552del
NM_201571.4:c.1682_1717del (CACNB2)	NP_963865.2:p.Asn561_His572del
NM_201572.4:c.1610_1645del (CACNB2)	NP_963866.2:p.Asn537_His548del
NM_201590.3:c.1604_1639del (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asn535_His546del
NM_201593.3:c.1652_1687del (CACNB2)	NP_963887.2:p.Asn551_His562del
NM_201596.3:c.1766_1801del (CACNB2) MANE Select	NP_963890.2:p.Asn589_His600del
NM_201597.3:c.1694_1729del (CACNB2)	NP_963891.1:p.Asn565_His576del