Canonical Allele Identifier: CA592060485

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs1241275122
• gnomAD v2: 10-18828397-ATGACCACGTGGACCACTATGCCTCACACCG-A
• gnomAD v3: 10-18539468-ATGACCACGTGGACCACTATGCCTCACACCG-A
• gnomAD v4: 10-18539468-ATGACCACGTGGACCACTATGCCTCACACCG-A
• MyVariant Identifiers: chr10:g.18828398_18828427del (hg19) ; chr10:g.18539469_18539498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539476_18539505del , CM000672.2:g.18539476_18539505del	GRCh38
NC_000010.10:g.18828405_18828434del , CM000672.1:g.18828405_18828434del	GRCh37
NC_000010.9:g.18868411_18868440del	NCBI36
NG_016195.1:g.403800_403829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1591_1620del (CACNB2)	ENSP00000366532.4:p.Val531_His540del
ENST00000377319.9:c.1456_1485del (CACNB2)	ENSP00000366536.3:p.Val486_His495del
ENST00000645287.2:c.1579_1608del (CACNB2)	ENSP00000496203.1:p.Val527_His536del
ENST00000282343.13:c.1651_1680del (CACNB2)	ENSP00000282343.8:p.Val551_His560del
ENST00000324631.13:c.1735_1764del (CACNB2) MANE Select	ENSP00000320025.8:p.Val579_His588del
ENST00000377315.5:c.1591_1620del (CACNB2)	ENSP00000366532.4:p.Val531_His540del
ENST00000377319.8:c.1456_1485del (CACNB2)	ENSP00000366536.3:p.Val486_His495del
ENST00000377329.10:c.1573_1602del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Val525_His534del
ENST00000377331.8:c.1360_1389del (CACNB2)	ENSP00000366548.4:p.Val454_His463del
ENST00000643096.2:c.1537_1566del (CACNB2)	ENSP00000494209.2:p.Val513_His522del
ENST00000645287.1:c.1579_1608del (CACNB2)	ENSP00000496203.1:p.Val527_His536del
ENST00000647168.2:c.*876_*905del (CACNB2)	ENSP00000495854.2:n.*876_*905del
ENST00000650685.1:c.1477_1506del (CACNB2)	ENSP00000498460.1:p.Val493_His502del
ENST00000651330.1:c.*1009_*1038del (CACNB2)	ENSP00000498457.1:n.*1009_*1038del
ENST00000651468.1:c.1292_1321del (CACNB2)	ENSP00000498352.1:n.1292_1321del
ENST00000651928.1:c.*974_*1003del (CACNB2)	ENSP00000499177.1:n.*974_*1003del
ENST00000652391.1:c.1555_1584del (CACNB2)	ENSP00000498938.1:p.Val519_His528del
ENST00000652478.1:c.*835_*864del (CACNB2)	ENSP00000498812.1:n.*835_*864del
ENST00000282343.12:c.1651_1680del (CACNB2)	ENSP00000282343.8:p.Val551_His560del
ENST00000324631.11:c.1735_1764del (CACNB2)	ENSP00000320025.7:p.Val579_His588del
ENST00000352115.10:c.1663_1692del (CACNB2)	ENSP00000344474.6:p.Val555_His564del
ENST00000377315.4:c.1591_1620del (CACNB2)	ENSP00000366532.4:p.Val531_His540del
ENST00000377319.7:c.1456_1485del (CACNB2)	ENSP00000366536.3:p.Val486_His495del
ENST00000377328.5:c.985_1014del (CACNB2)	ENSP00000366545.1:p.Val329_His338del
ENST00000377329.8:c.1573_1602del (CACNB2)	ENSP00000366546.4:p.Val525_His534del
ENST00000377331.6:c.1579_1608del (CACNB2)	ENSP00000366548.2:p.Val527_His536del
ENST00000396576.6:c.1570_1599del (CACNB2)	ENSP00000379821.2:p.Val524_His533del
ENST00000612134.4:c.1439_1468del (CACNB2)	ENSP00000480563.1:n.1439_1468del
ENST00000612743.1:c.247_276del (CACNB2)	ENSP00000478676.1:p.Val83_His92del
ENST00000615785.4:c.820_849del (CACNB2)	ENSP00000480260.1:p.Val274_His283del
ENST00000617363.4:c.1498_1527del (CACNB2)	ENSP00000479756.1:p.Val500_His509del
NM_000724.3:c.1570_1599del (CACNB2)	NP_000715.2:p.Val524_His533del
NM_001167945.1:c.1537_1566del (CACNB2)	NP_001161417.1:p.Val513_His522del
NM_201570.2:c.1591_1620del (CACNB2)	NP_963864.1:p.Val531_His540del
NM_201571.3:c.1651_1680del (CACNB2)	NP_963865.2:p.Val551_His560del
NM_201572.3:c.1579_1608del (CACNB2)	NP_963866.2:p.Val527_His536del
NM_201590.2:c.1573_1602del (CACNB2)	NP_963884.2:p.Val525_His534del
NM_201593.2:c.1621_1650del (CACNB2)	NP_963887.2:p.Val541_His550del
NM_201596.2:c.1735_1764del (CACNB2)	NP_963890.2:p.Val579_His588del
NM_201597.2:c.1663_1692del (CACNB2)	NP_963891.1:p.Val555_His564del
XM_005252588.2:c.1477_1506del (CACNB2)	XP_005252645.1:p.Val493_His502del
XM_005252591.2:c.895_924del (CACNB2)	XP_005252648.1:p.Val299_His308del
XM_006717502.2:c.1555_1584del (CACNB2)	XP_006717565.1:p.Val519_His528del
XM_011519659.1:c.1501_1530del (CACNB2)	XP_011517961.1:p.Val501_His510del
XM_011519660.1:c.1456_1485del (CACNB2)	XP_011517962.1:p.Val486_His495del
NM_001330060.1:c.1456_1485del (CACNB2)	NP_001316989.1:p.Val486_His495del
XM_005252588.4:c.1477_1506del (CACNB2)	XP_005252645.1:p.Val493_His502del
XM_005252591.3:c.895_924del (CACNB2)	XP_005252648.1:p.Val299_His308del
XM_006717502.3:c.1555_1584del (CACNB2)	XP_006717565.1:p.Val519_His528del
XM_011519659.2:c.1501_1530del (CACNB2)	XP_011517961.1:p.Val501_His510del
XM_017016625.1:c.895_924del (CACNB2)	XP_016872114.1:p.Val299_His308del
XR_001747060.1:n.2423+2571_2423+2600del (NSUN6)
XR_001747198.1:n.1860_1889del (CACNB2)
NM_000724.4:c.1570_1599del (CACNB2)	NP_000715.2:p.Val524_His533del
NM_001167945.2:c.1537_1566del (CACNB2)	NP_001161417.1:p.Val513_His522del
NM_001330060.2:c.1456_1485del (CACNB2)	NP_001316989.1:p.Val486_His495del
NM_201570.3:c.1591_1620del (CACNB2)	NP_963864.1:p.Val531_His540del
NM_201571.4:c.1651_1680del (CACNB2)	NP_963865.2:p.Val551_His560del
NM_201572.4:c.1579_1608del (CACNB2)	NP_963866.2:p.Val527_His536del
NM_201590.3:c.1573_1602del (CACNB2) MANE Plus Clinical	NP_963884.2:p.Val525_His534del
NM_201593.3:c.1621_1650del (CACNB2)	NP_963887.2:p.Val541_His550del
NM_201596.3:c.1735_1764del (CACNB2) MANE Select	NP_963890.2:p.Val579_His588del
NM_201597.3:c.1663_1692del (CACNB2)	NP_963891.1:p.Val555_His564del