Canonical Allele Identifier: CA592060476

Gene: CACNB2 NSUN6

Linked Data

• ClinVar Variation Id: 2447821
• ClinVar RCV Id: RCV003168040
• dbSNP Id: rs1564677253
• gnomAD v2: 10-18828327-G-GAGAC
• gnomAD v4: 10-18539398-G-GAGAC
• MyVariant Identifiers: chr10:g.18828327_18828328insAGAC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539400_18539403dup , CM000672.2:g.18539400_18539403dup	GRCh38
NC_000010.10:g.18828329_18828332dup , CM000672.1:g.18828329_18828332dup	GRCh37
NC_000010.9:g.18868335_18868338dup	NCBI36
NG_016195.1:g.403724_403727dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1515_1518dup (CACNB2)	ENSP00000366532.4:p.Phe507AspfsTer3
ENST00000377319.9:c.1380_1383dup (CACNB2)	ENSP00000366536.3:p.Phe462AspfsTer3
ENST00000645287.2:c.1503_1506dup (CACNB2)	ENSP00000496203.1:p.Phe503AspfsTer3
ENST00000282343.13:c.1575_1578dup (CACNB2)	ENSP00000282343.8:p.Phe527AspfsTer3
ENST00000324631.13:c.1659_1662dup (CACNB2) MANE Select	ENSP00000320025.8:p.Phe555AspfsTer3
ENST00000377315.5:c.1515_1518dup (CACNB2)	ENSP00000366532.4:p.Phe507AspfsTer3
ENST00000377319.8:c.1380_1383dup (CACNB2)	ENSP00000366536.3:p.Phe462AspfsTer3
ENST00000377329.10:c.1497_1500dup (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Phe501AspfsTer3
ENST00000377331.8:c.1284_1287dup (CACNB2)	ENSP00000366548.4:p.Phe430AspfsTer3
ENST00000643096.2:c.1461_1464dup (CACNB2)	ENSP00000494209.2:p.Phe489AspfsTer3
ENST00000645287.1:c.1503_1506dup (CACNB2)	ENSP00000496203.1:p.Phe503AspfsTer3
ENST00000647168.2:c.*800_*803dup (CACNB2)	ENSP00000495854.2:n.*800_*803dup
ENST00000650685.1:c.1401_1404dup (CACNB2)	ENSP00000498460.1:p.Phe469AspfsTer3
ENST00000651330.1:c.*933_*936dup (CACNB2)	ENSP00000498457.1:n.*933_*936dup
ENST00000651468.1:c.1216_1219dup (CACNB2)	ENSP00000498352.1:n.1216_1219dup
ENST00000651928.1:c.*898_*901dup (CACNB2)	ENSP00000499177.1:n.*898_*901dup
ENST00000652391.1:c.1479_1482dup (CACNB2)	ENSP00000498938.1:p.Phe495AspfsTer3
ENST00000652478.1:c.*759_*762dup (CACNB2)	ENSP00000498812.1:n.*759_*762dup
ENST00000282343.12:c.1575_1578dup (CACNB2)	ENSP00000282343.8:p.Phe527AspfsTer3
ENST00000324631.11:c.1659_1662dup (CACNB2)	ENSP00000320025.7:p.Phe555AspfsTer3
ENST00000352115.10:c.1587_1590dup (CACNB2)	ENSP00000344474.6:p.Phe531AspfsTer3
ENST00000377315.4:c.1515_1518dup (CACNB2)	ENSP00000366532.4:p.Phe507AspfsTer3
ENST00000377319.7:c.1380_1383dup (CACNB2)	ENSP00000366536.3:p.Phe462AspfsTer3
ENST00000377328.5:c.909_912dup (CACNB2)	ENSP00000366545.1:p.Phe305AspfsTer3
ENST00000377329.8:c.1497_1500dup (CACNB2)	ENSP00000366546.4:p.Phe501AspfsTer3
ENST00000377331.6:c.1503_1506dup (CACNB2)	ENSP00000366548.2:p.Phe503AspfsTer3
ENST00000396576.6:c.1494_1497dup (CACNB2)	ENSP00000379821.2:p.Phe500AspfsTer3
ENST00000612134.4:c.1363_1366dup (CACNB2)	ENSP00000480563.1:n.1363_1366dup
ENST00000612743.1:c.171_174dup (CACNB2)	ENSP00000478676.1:p.Phe59AspfsTer3
ENST00000615785.4:c.744_747dup (CACNB2)	ENSP00000480260.1:p.Phe250AspfsTer3
ENST00000617363.4:c.1422_1425dup (CACNB2)	ENSP00000479756.1:p.Phe476AspfsTer3
NM_000724.3:c.1494_1497dup (CACNB2)	NP_000715.2:p.Phe500AspfsTer3
NM_001167945.1:c.1461_1464dup (CACNB2)	NP_001161417.1:p.Phe489AspfsTer3
NM_201570.2:c.1515_1518dup (CACNB2)	NP_963864.1:p.Phe507AspfsTer3
NM_201571.3:c.1575_1578dup (CACNB2)	NP_963865.2:p.Phe527AspfsTer3
NM_201572.3:c.1503_1506dup (CACNB2)	NP_963866.2:p.Phe503AspfsTer3
NM_201590.2:c.1497_1500dup (CACNB2)	NP_963884.2:p.Phe501AspfsTer3
NM_201593.2:c.1545_1548dup (CACNB2)	NP_963887.2:p.Phe517AspfsTer3
NM_201596.2:c.1659_1662dup (CACNB2)	NP_963890.2:p.Phe555AspfsTer3
NM_201597.2:c.1587_1590dup (CACNB2)	NP_963891.1:p.Phe531AspfsTer3
XM_005252588.2:c.1401_1404dup (CACNB2)	XP_005252645.1:p.Phe469AspfsTer3
XM_005252591.2:c.819_822dup (CACNB2)	XP_005252648.1:p.Phe275AspfsTer3
XM_006717502.2:c.1479_1482dup (CACNB2)	XP_006717565.1:p.Phe495AspfsTer3
XM_011519659.1:c.1425_1428dup (CACNB2)	XP_011517961.1:p.Phe477AspfsTer3
XM_011519660.1:c.1380_1383dup (CACNB2)	XP_011517962.1:p.Phe462AspfsTer3
NM_001330060.1:c.1380_1383dup (CACNB2)	NP_001316989.1:p.Phe462AspfsTer3
XM_005252588.4:c.1401_1404dup (CACNB2)	XP_005252645.1:p.Phe469AspfsTer3
XM_005252591.3:c.819_822dup (CACNB2)	XP_005252648.1:p.Phe275AspfsTer3
XM_006717502.3:c.1479_1482dup (CACNB2)	XP_006717565.1:p.Phe495AspfsTer3
XM_011519659.2:c.1425_1428dup (CACNB2)	XP_011517961.1:p.Phe477AspfsTer3
XM_017016625.1:c.819_822dup (CACNB2)	XP_016872114.1:p.Phe275AspfsTer3
XR_001747060.1:n.2423+2667_2423+2670dup (NSUN6)
XR_001747198.1:n.1784_1787dup (CACNB2)
NM_000724.4:c.1494_1497dup (CACNB2)	NP_000715.2:p.Phe500AspfsTer3
NM_001167945.2:c.1461_1464dup (CACNB2)	NP_001161417.1:p.Phe489AspfsTer3
NM_001330060.2:c.1380_1383dup (CACNB2)	NP_001316989.1:p.Phe462AspfsTer3
NM_201570.3:c.1515_1518dup (CACNB2)	NP_963864.1:p.Phe507AspfsTer3
NM_201571.4:c.1575_1578dup (CACNB2)	NP_963865.2:p.Phe527AspfsTer3
NM_201572.4:c.1503_1506dup (CACNB2)	NP_963866.2:p.Phe503AspfsTer3
NM_201590.3:c.1497_1500dup (CACNB2) MANE Plus Clinical	NP_963884.2:p.Phe501AspfsTer3
NM_201593.3:c.1545_1548dup (CACNB2)	NP_963887.2:p.Phe517AspfsTer3
NM_201596.3:c.1659_1662dup (CACNB2) MANE Select	NP_963890.2:p.Phe555AspfsTer3
NM_201597.3:c.1587_1590dup (CACNB2)	NP_963891.1:p.Phe531AspfsTer3