Canonical Allele Identifier: CA2608435626

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539488-G-GCCTCACACCGTGACCACAACC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539489_18539509dup , CM000672.2:g.18539489_18539509dup	GRCh38
NC_000010.10:g.18828418_18828438dup , CM000672.1:g.18828418_18828438dup	GRCh37
NC_000010.9:g.18868424_18868444dup	NCBI36
NG_016195.1:g.403813_403833dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1604_1624dup (CACNB2)	ENSP00000366532.4:p.Asn541_His542insProSerHisArgAspHisAsn
ENST00000377319.9:c.1469_1489dup (CACNB2)	ENSP00000366536.3:p.Asn496_His497insProSerHisArgAspHisAsn
ENST00000645287.2:c.1592_1612dup (CACNB2)	ENSP00000496203.1:p.Asn537_His538insProSerHisArgAspHisAsn
ENST00000282343.13:c.1664_1684dup (CACNB2)	ENSP00000282343.8:p.Asn561_His562insProSerHisArgAspHisAsn
ENST00000324631.13:c.1748_1768dup (CACNB2) MANE Select	ENSP00000320025.8:p.Asn589_His590insProSerHisArgAspHisAsn
ENST00000377315.5:c.1604_1624dup (CACNB2)	ENSP00000366532.4:p.Asn541_His542insProSerHisArgAspHisAsn
ENST00000377319.8:c.1469_1489dup (CACNB2)	ENSP00000366536.3:p.Asn496_His497insProSerHisArgAspHisAsn
ENST00000377329.10:c.1586_1606dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Asn535_His536insProSerHisArgAspHisAsn
ENST00000377331.8:c.1373_1393dup (CACNB2)	ENSP00000366548.4:p.Asn464_His465insProSerHisArgAspHisAsn
ENST00000643096.2:c.1550_1570dup (CACNB2)	ENSP00000494209.2:p.Asn523_His524insProSerHisArgAspHisAsn
ENST00000645287.1:c.1592_1612dup (CACNB2)	ENSP00000496203.1:p.Asn537_His538insProSerHisArgAspHisAsn
ENST00000647168.2:c.*889_*909dup (CACNB2)	ENSP00000495854.2:n.*889_*909dup
ENST00000650685.1:c.1490_1510dup (CACNB2)	ENSP00000498460.1:p.Asn503_His504insProSerHisArgAspHisAsn
ENST00000651330.1:c.*1022_*1042dup (CACNB2)	ENSP00000498457.1:n.*1022_*1042dup
ENST00000651468.1:c.1305_1325dup (CACNB2)	ENSP00000498352.1:n.1305_1325dup
ENST00000651928.1:c.*987_*1007dup (CACNB2)	ENSP00000499177.1:n.*987_*1007dup
ENST00000652391.1:c.1568_1588dup (CACNB2)	ENSP00000498938.1:p.Asn529_His530insProSerHisArgAspHisAsn
ENST00000652478.1:c.*848_*868dup (CACNB2)	ENSP00000498812.1:n.*848_*868dup
ENST00000282343.12:c.1664_1684dup (CACNB2)	ENSP00000282343.8:p.Asn561_His562insProSerHisArgAspHisAsn
ENST00000324631.11:c.1748_1768dup (CACNB2)	ENSP00000320025.7:p.Asn589_His590insProSerHisArgAspHisAsn
ENST00000352115.10:c.1676_1696dup (CACNB2)	ENSP00000344474.6:p.Asn565_His566insProSerHisArgAspHisAsn
ENST00000377315.4:c.1604_1624dup (CACNB2)	ENSP00000366532.4:p.Asn541_His542insProSerHisArgAspHisAsn
ENST00000377319.7:c.1469_1489dup (CACNB2)	ENSP00000366536.3:p.Asn496_His497insProSerHisArgAspHisAsn
ENST00000377328.5:c.998_1018dup (CACNB2)	ENSP00000366545.1:p.Asn339_His340insProSerHisArgAspHisAsn
ENST00000377329.8:c.1586_1606dup (CACNB2)	ENSP00000366546.4:p.Asn535_His536insProSerHisArgAspHisAsn
ENST00000377331.6:c.1592_1612dup (CACNB2)	ENSP00000366548.2:p.Asn537_His538insProSerHisArgAspHisAsn
ENST00000396576.6:c.1583_1603dup (CACNB2)	ENSP00000379821.2:p.Asn534_His535insProSerHisArgAspHisAsn
ENST00000612134.4:c.1452_1472dup (CACNB2)	ENSP00000480563.1:n.1452_1472dup
ENST00000612743.1:c.260_280dup (CACNB2)	ENSP00000478676.1:p.Asn93_His94insProSerHisArgAspHisAsn
ENST00000615785.4:c.833_853dup (CACNB2)	ENSP00000480260.1:p.Asn284_His285insProSerHisArgAspHisAsn
ENST00000617363.4:c.1511_1531dup (CACNB2)	ENSP00000479756.1:p.Asn510_His511insProSerHisArgAspHisAsn
NM_000724.3:c.1583_1603dup (CACNB2)	NP_000715.2:p.Asn534_His535insProSerHisArgAspHisAsn
NM_001167945.1:c.1550_1570dup (CACNB2)	NP_001161417.1:p.Asn523_His524insProSerHisArgAspHisAsn
NM_201570.2:c.1604_1624dup (CACNB2)	NP_963864.1:p.Asn541_His542insProSerHisArgAspHisAsn
NM_201571.3:c.1664_1684dup (CACNB2)	NP_963865.2:p.Asn561_His562insProSerHisArgAspHisAsn
NM_201572.3:c.1592_1612dup (CACNB2)	NP_963866.2:p.Asn537_His538insProSerHisArgAspHisAsn
NM_201590.2:c.1586_1606dup (CACNB2)	NP_963884.2:p.Asn535_His536insProSerHisArgAspHisAsn
NM_201593.2:c.1634_1654dup (CACNB2)	NP_963887.2:p.Asn551_His552insProSerHisArgAspHisAsn
NM_201596.2:c.1748_1768dup (CACNB2)	NP_963890.2:p.Asn589_His590insProSerHisArgAspHisAsn
NM_201597.2:c.1676_1696dup (CACNB2)	NP_963891.1:p.Asn565_His566insProSerHisArgAspHisAsn
XM_005252588.2:c.1490_1510dup (CACNB2)	XP_005252645.1:p.Asn503_His504insProSerHisArgAspHisAsn
XM_005252591.2:c.908_928dup (CACNB2)	XP_005252648.1:p.Asn309_His310insProSerHisArgAspHisAsn
XM_006717502.2:c.1568_1588dup (CACNB2)	XP_006717565.1:p.Asn529_His530insProSerHisArgAspHisAsn
XM_011519659.1:c.1514_1534dup (CACNB2)	XP_011517961.1:p.Asn511_His512insProSerHisArgAspHisAsn
XM_011519660.1:c.1469_1489dup (CACNB2)	XP_011517962.1:p.Asn496_His497insProSerHisArgAspHisAsn
NM_001330060.1:c.1469_1489dup (CACNB2)	NP_001316989.1:p.Asn496_His497insProSerHisArgAspHisAsn
XM_005252588.4:c.1490_1510dup (CACNB2)	XP_005252645.1:p.Asn503_His504insProSerHisArgAspHisAsn
XM_005252591.3:c.908_928dup (CACNB2)	XP_005252648.1:p.Asn309_His310insProSerHisArgAspHisAsn
XM_006717502.3:c.1568_1588dup (CACNB2)	XP_006717565.1:p.Asn529_His530insProSerHisArgAspHisAsn
XM_011519659.2:c.1514_1534dup (CACNB2)	XP_011517961.1:p.Asn511_His512insProSerHisArgAspHisAsn
XM_017016625.1:c.908_928dup (CACNB2)	XP_016872114.1:p.Asn309_His310insProSerHisArgAspHisAsn
XR_001747060.1:n.2423+2560_2423+2580dup (NSUN6)
XR_001747198.1:n.1873_1893dup (CACNB2)
NM_000724.4:c.1583_1603dup (CACNB2)	NP_000715.2:p.Asn534_His535insProSerHisArgAspHisAsn
NM_001167945.2:c.1550_1570dup (CACNB2)	NP_001161417.1:p.Asn523_His524insProSerHisArgAspHisAsn
NM_001330060.2:c.1469_1489dup (CACNB2)	NP_001316989.1:p.Asn496_His497insProSerHisArgAspHisAsn
NM_201570.3:c.1604_1624dup (CACNB2)	NP_963864.1:p.Asn541_His542insProSerHisArgAspHisAsn
NM_201571.4:c.1664_1684dup (CACNB2)	NP_963865.2:p.Asn561_His562insProSerHisArgAspHisAsn
NM_201572.4:c.1592_1612dup (CACNB2)	NP_963866.2:p.Asn537_His538insProSerHisArgAspHisAsn
NM_201590.3:c.1586_1606dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Asn535_His536insProSerHisArgAspHisAsn
NM_201593.3:c.1634_1654dup (CACNB2)	NP_963887.2:p.Asn551_His552insProSerHisArgAspHisAsn
NM_201596.3:c.1748_1768dup (CACNB2) MANE Select	NP_963890.2:p.Asn589_His590insProSerHisArgAspHisAsn
NM_201597.3:c.1676_1696dup (CACNB2)	NP_963891.1:p.Asn565_His566insProSerHisArgAspHisAsn