Canonical Allele Identifier: CA592060481

Gene: CACNB2 NSUN6

Linked Data

• dbSNP Id: rs1451052409
• gnomAD v2: 10-18828350-G-GGAGAGTCGAGACTCTGCCTACGTA
• gnomAD v4: 10-18539421-G-GGAGAGTCGAGACTCTGCCTACGTA
• MyVariant Identifiers: chr10:g.18828350_18828351insGAGAGTCGAGACTCTGCCTACGTA (hg19) ; chr10:g.18539421_18539422insGAGAGTCGAGACTCTGCCTACGTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539425_18539448dup , CM000672.2:g.18539425_18539448dup	GRCh38
NC_000010.10:g.18828354_18828377dup , CM000672.1:g.18828354_18828377dup	GRCh37
NC_000010.9:g.18868360_18868383dup	NCBI36
NG_016195.1:g.403749_403772dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1540_1563dup (CACNB2)	ENSP00000366532.4:p.Glu521_Pro522insSerArgAspSerAlaTyrValGlu
ENST00000377319.9:c.1405_1428dup (CACNB2)	ENSP00000366536.3:p.Glu476_Pro477insSerArgAspSerAlaTyrValGlu
ENST00000645287.2:c.1528_1551dup (CACNB2)	ENSP00000496203.1:p.Glu517_Pro518insSerArgAspSerAlaTyrValGlu
ENST00000282343.13:c.1600_1623dup (CACNB2)	ENSP00000282343.8:p.Glu541_Pro542insSerArgAspSerAlaTyrValGlu
ENST00000324631.13:c.1684_1707dup (CACNB2) MANE Select	ENSP00000320025.8:p.Glu569_Pro570insSerArgAspSerAlaTyrValGlu
ENST00000377315.5:c.1540_1563dup (CACNB2)	ENSP00000366532.4:p.Glu521_Pro522insSerArgAspSerAlaTyrValGlu
ENST00000377319.8:c.1405_1428dup (CACNB2)	ENSP00000366536.3:p.Glu476_Pro477insSerArgAspSerAlaTyrValGlu
ENST00000377329.10:c.1522_1545dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu515_Pro516insSerArgAspSerAlaTyrValGlu
ENST00000377331.8:c.1309_1332dup (CACNB2)	ENSP00000366548.4:p.Glu444_Pro445insSerArgAspSerAlaTyrValGlu
ENST00000643096.2:c.1486_1509dup (CACNB2)	ENSP00000494209.2:p.Glu503_Pro504insSerArgAspSerAlaTyrValGlu
ENST00000645287.1:c.1528_1551dup (CACNB2)	ENSP00000496203.1:p.Glu517_Pro518insSerArgAspSerAlaTyrValGlu
ENST00000647168.2:c.*825_*848dup (CACNB2)	ENSP00000495854.2:n.*825_*848dup
ENST00000650685.1:c.1426_1449dup (CACNB2)	ENSP00000498460.1:p.Glu483_Pro484insSerArgAspSerAlaTyrValGlu
ENST00000651330.1:c.*958_*981dup (CACNB2)	ENSP00000498457.1:n.*958_*981dup
ENST00000651468.1:c.1241_1264dup (CACNB2)	ENSP00000498352.1:n.1241_1264dup
ENST00000651928.1:c.*923_*946dup (CACNB2)	ENSP00000499177.1:n.*923_*946dup
ENST00000652391.1:c.1504_1527dup (CACNB2)	ENSP00000498938.1:p.Glu509_Pro510insSerArgAspSerAlaTyrValGlu
ENST00000652478.1:c.*784_*807dup (CACNB2)	ENSP00000498812.1:n.*784_*807dup
ENST00000282343.12:c.1600_1623dup (CACNB2)	ENSP00000282343.8:p.Glu541_Pro542insSerArgAspSerAlaTyrValGlu
ENST00000324631.11:c.1684_1707dup (CACNB2)	ENSP00000320025.7:p.Glu569_Pro570insSerArgAspSerAlaTyrValGlu
ENST00000352115.10:c.1612_1635dup (CACNB2)	ENSP00000344474.6:p.Glu545_Pro546insSerArgAspSerAlaTyrValGlu
ENST00000377315.4:c.1540_1563dup (CACNB2)	ENSP00000366532.4:p.Glu521_Pro522insSerArgAspSerAlaTyrValGlu
ENST00000377319.7:c.1405_1428dup (CACNB2)	ENSP00000366536.3:p.Glu476_Pro477insSerArgAspSerAlaTyrValGlu
ENST00000377328.5:c.934_957dup (CACNB2)	ENSP00000366545.1:p.Glu319_Pro320insSerArgAspSerAlaTyrValGlu
ENST00000377329.8:c.1522_1545dup (CACNB2)	ENSP00000366546.4:p.Glu515_Pro516insSerArgAspSerAlaTyrValGlu
ENST00000377331.6:c.1528_1551dup (CACNB2)	ENSP00000366548.2:p.Glu517_Pro518insSerArgAspSerAlaTyrValGlu
ENST00000396576.6:c.1519_1542dup (CACNB2)	ENSP00000379821.2:p.Glu514_Pro515insSerArgAspSerAlaTyrValGlu
ENST00000612134.4:c.1388_1411dup (CACNB2)	ENSP00000480563.1:n.1388_1411dup
ENST00000612743.1:c.196_219dup (CACNB2)	ENSP00000478676.1:p.Glu73_Pro74insSerArgAspSerAlaTyrValGlu
ENST00000615785.4:c.769_792dup (CACNB2)	ENSP00000480260.1:p.Glu264_Pro265insSerArgAspSerAlaTyrValGlu
ENST00000617363.4:c.1447_1470dup (CACNB2)	ENSP00000479756.1:p.Glu490_Pro491insSerArgAspSerAlaTyrValGlu
NM_000724.3:c.1519_1542dup (CACNB2)	NP_000715.2:p.Glu514_Pro515insSerArgAspSerAlaTyrValGlu
NM_001167945.1:c.1486_1509dup (CACNB2)	NP_001161417.1:p.Glu503_Pro504insSerArgAspSerAlaTyrValGlu
NM_201570.2:c.1540_1563dup (CACNB2)	NP_963864.1:p.Glu521_Pro522insSerArgAspSerAlaTyrValGlu
NM_201571.3:c.1600_1623dup (CACNB2)	NP_963865.2:p.Glu541_Pro542insSerArgAspSerAlaTyrValGlu
NM_201572.3:c.1528_1551dup (CACNB2)	NP_963866.2:p.Glu517_Pro518insSerArgAspSerAlaTyrValGlu
NM_201590.2:c.1522_1545dup (CACNB2)	NP_963884.2:p.Glu515_Pro516insSerArgAspSerAlaTyrValGlu
NM_201593.2:c.1570_1593dup (CACNB2)	NP_963887.2:p.Glu531_Pro532insSerArgAspSerAlaTyrValGlu
NM_201596.2:c.1684_1707dup (CACNB2)	NP_963890.2:p.Glu569_Pro570insSerArgAspSerAlaTyrValGlu
NM_201597.2:c.1612_1635dup (CACNB2)	NP_963891.1:p.Glu545_Pro546insSerArgAspSerAlaTyrValGlu
XM_005252588.2:c.1426_1449dup (CACNB2)	XP_005252645.1:p.Glu483_Pro484insSerArgAspSerAlaTyrValGlu
XM_005252591.2:c.844_867dup (CACNB2)	XP_005252648.1:p.Glu289_Pro290insSerArgAspSerAlaTyrValGlu
XM_006717502.2:c.1504_1527dup (CACNB2)	XP_006717565.1:p.Glu509_Pro510insSerArgAspSerAlaTyrValGlu
XM_011519659.1:c.1450_1473dup (CACNB2)	XP_011517961.1:p.Glu491_Pro492insSerArgAspSerAlaTyrValGlu
XM_011519660.1:c.1405_1428dup (CACNB2)	XP_011517962.1:p.Glu476_Pro477insSerArgAspSerAlaTyrValGlu
NM_001330060.1:c.1405_1428dup (CACNB2)	NP_001316989.1:p.Glu476_Pro477insSerArgAspSerAlaTyrValGlu
XM_005252588.4:c.1426_1449dup (CACNB2)	XP_005252645.1:p.Glu483_Pro484insSerArgAspSerAlaTyrValGlu
XM_005252591.3:c.844_867dup (CACNB2)	XP_005252648.1:p.Glu289_Pro290insSerArgAspSerAlaTyrValGlu
XM_006717502.3:c.1504_1527dup (CACNB2)	XP_006717565.1:p.Glu509_Pro510insSerArgAspSerAlaTyrValGlu
XM_011519659.2:c.1450_1473dup (CACNB2)	XP_011517961.1:p.Glu491_Pro492insSerArgAspSerAlaTyrValGlu
XM_017016625.1:c.844_867dup (CACNB2)	XP_016872114.1:p.Glu289_Pro290insSerArgAspSerAlaTyrValGlu
XR_001747060.1:n.2423+2624_2423+2647dup (NSUN6)
XR_001747198.1:n.1809_1832dup (CACNB2)
NM_000724.4:c.1519_1542dup (CACNB2)	NP_000715.2:p.Glu514_Pro515insSerArgAspSerAlaTyrValGlu
NM_001167945.2:c.1486_1509dup (CACNB2)	NP_001161417.1:p.Glu503_Pro504insSerArgAspSerAlaTyrValGlu
NM_001330060.2:c.1405_1428dup (CACNB2)	NP_001316989.1:p.Glu476_Pro477insSerArgAspSerAlaTyrValGlu
NM_201570.3:c.1540_1563dup (CACNB2)	NP_963864.1:p.Glu521_Pro522insSerArgAspSerAlaTyrValGlu
NM_201571.4:c.1600_1623dup (CACNB2)	NP_963865.2:p.Glu541_Pro542insSerArgAspSerAlaTyrValGlu
NM_201572.4:c.1528_1551dup (CACNB2)	NP_963866.2:p.Glu517_Pro518insSerArgAspSerAlaTyrValGlu
NM_201590.3:c.1522_1545dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu515_Pro516insSerArgAspSerAlaTyrValGlu
NM_201593.3:c.1570_1593dup (CACNB2)	NP_963887.2:p.Glu531_Pro532insSerArgAspSerAlaTyrValGlu
NM_201596.3:c.1684_1707dup (CACNB2) MANE Select	NP_963890.2:p.Glu569_Pro570insSerArgAspSerAlaTyrValGlu
NM_201597.3:c.1612_1635dup (CACNB2)	NP_963891.1:p.Glu545_Pro546insSerArgAspSerAlaTyrValGlu