Canonical Allele Identifier: CA2574454702

Gene: CACNB2 NSUN6

Linked Data

• gnomAD v4: 10-18539519-AGACCCACGGGAGCAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539524_18539539del , CM000672.2:g.18539524_18539539del	GRCh38
NC_000010.10:g.18828453_18828468del , CM000672.1:g.18828453_18828468del	GRCh37
NC_000010.9:g.18868459_18868474del	NCBI36
NG_016195.1:g.403848_403863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1639_1654del (CACNB2)	ENSP00000366532.4:p.His547ThrfsTer?
ENST00000377319.9:c.1504_1519del (CACNB2)	ENSP00000366536.3:p.His502ThrfsTer?
ENST00000645287.2:c.1627_1642del (CACNB2)	ENSP00000496203.1:p.His543ThrfsTer?
ENST00000282343.13:c.1699_1714del (CACNB2)	ENSP00000282343.8:p.His567ThrfsTer?
ENST00000324631.13:c.1783_1798del (CACNB2) MANE Select	ENSP00000320025.8:p.His595ThrfsTer?
ENST00000377315.5:c.1639_1654del (CACNB2)	ENSP00000366532.4:p.His547ThrfsTer?
ENST00000377319.8:c.1504_1519del (CACNB2)	ENSP00000366536.3:p.His502ThrfsTer?
ENST00000377329.10:c.1621_1636del (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.His541ThrfsTer?
ENST00000377331.8:c.1408_1423del (CACNB2)	ENSP00000366548.4:p.His470ThrfsTer?
ENST00000643096.2:c.1585_1600del (CACNB2)	ENSP00000494209.2:p.His529ThrfsTer?
ENST00000645287.1:c.1627_1642del (CACNB2)	ENSP00000496203.1:p.His543ThrfsTer?
ENST00000647168.2:c.*924_*939del (CACNB2)	ENSP00000495854.2:n.*924_*939del
ENST00000650685.1:c.1525_1540del (CACNB2)	ENSP00000498460.1:p.His509ThrfsTer?
ENST00000651330.1:c.*1057_*1072del (CACNB2)	ENSP00000498457.1:n.*1057_*1072del
ENST00000651468.1:c.1340_1355del (CACNB2)	ENSP00000498352.1:n.1340_1355del
ENST00000651928.1:c.*1022_*1037del (CACNB2)	ENSP00000499177.1:n.*1022_*1037del
ENST00000652391.1:c.1603_1618del (CACNB2)	ENSP00000498938.1:p.His535ThrfsTer?
ENST00000652478.1:c.*883_*898del (CACNB2)	ENSP00000498812.1:n.*883_*898del
ENST00000282343.12:c.1699_1714del (CACNB2)	ENSP00000282343.8:p.His567ThrfsTer?
ENST00000324631.11:c.1783_1798del (CACNB2)	ENSP00000320025.7:p.His595ThrfsTer?
ENST00000352115.10:c.1711_1726del (CACNB2)	ENSP00000344474.6:p.His571ThrfsTer?
ENST00000377315.4:c.1639_1654del (CACNB2)	ENSP00000366532.4:p.His547ThrfsTer?
ENST00000377319.7:c.1504_1519del (CACNB2)	ENSP00000366536.3:p.His502ThrfsTer?
ENST00000377328.5:c.1033_1048del (CACNB2)	ENSP00000366545.1:p.His345ThrfsTer?
ENST00000377329.8:c.1621_1636del (CACNB2)	ENSP00000366546.4:p.His541ThrfsTer?
ENST00000377331.6:c.1627_1642del (CACNB2)	ENSP00000366548.2:p.His543ThrfsTer?
ENST00000396576.6:c.1618_1633del (CACNB2)	ENSP00000379821.2:p.His540ThrfsTer?
ENST00000612134.4:c.1487_1502del (CACNB2)	ENSP00000480563.1:n.1487_1502del
ENST00000612743.1:c.295_310del (CACNB2)	ENSP00000478676.1:p.His99ThrfsTer?
ENST00000615785.4:c.868_883del (CACNB2)	ENSP00000480260.1:p.His290ThrfsTer?
ENST00000617363.4:c.1546_1561del (CACNB2)	ENSP00000479756.1:p.His516ThrfsTer?
NM_000724.3:c.1618_1633del (CACNB2)	NP_000715.2:p.His540ThrfsTer?
NM_001167945.1:c.1585_1600del (CACNB2)	NP_001161417.1:p.His529ThrfsTer?
NM_201570.2:c.1639_1654del (CACNB2)	NP_963864.1:p.His547ThrfsTer?
NM_201571.3:c.1699_1714del (CACNB2)	NP_963865.2:p.His567ThrfsTer?
NM_201572.3:c.1627_1642del (CACNB2)	NP_963866.2:p.His543ThrfsTer?
NM_201590.2:c.1621_1636del (CACNB2)	NP_963884.2:p.His541ThrfsTer?
NM_201593.2:c.1669_1684del (CACNB2)	NP_963887.2:p.His557ThrfsTer?
NM_201596.2:c.1783_1798del (CACNB2)	NP_963890.2:p.His595ThrfsTer?
NM_201597.2:c.1711_1726del (CACNB2)	NP_963891.1:p.His571ThrfsTer?
XM_005252588.2:c.1525_1540del (CACNB2)	XP_005252645.1:p.His509ThrfsTer?
XM_005252591.2:c.943_958del (CACNB2)	XP_005252648.1:p.His315ThrfsTer?
XM_006717502.2:c.1603_1618del (CACNB2)	XP_006717565.1:p.His535ThrfsTer?
XM_011519659.1:c.1549_1564del (CACNB2)	XP_011517961.1:p.His517ThrfsTer?
XM_011519660.1:c.1504_1519del (CACNB2)	XP_011517962.1:p.His502ThrfsTer?
NM_001330060.1:c.1504_1519del (CACNB2)	NP_001316989.1:p.His502ThrfsTer?
XM_005252588.4:c.1525_1540del (CACNB2)	XP_005252645.1:p.His509ThrfsTer?
XM_005252591.3:c.943_958del (CACNB2)	XP_005252648.1:p.His315ThrfsTer?
XM_006717502.3:c.1603_1618del (CACNB2)	XP_006717565.1:p.His535ThrfsTer?
XM_011519659.2:c.1549_1564del (CACNB2)	XP_011517961.1:p.His517ThrfsTer?
XM_017016625.1:c.943_958del (CACNB2)	XP_016872114.1:p.His315ThrfsTer?
XR_001747060.1:n.2423+2534_2423+2549del (NSUN6)
XR_001747198.1:n.1908_1923del (CACNB2)
NM_000724.4:c.1618_1633del (CACNB2)	NP_000715.2:p.His540ThrfsTer?
NM_001167945.2:c.1585_1600del (CACNB2)	NP_001161417.1:p.His529ThrfsTer?
NM_001330060.2:c.1504_1519del (CACNB2)	NP_001316989.1:p.His502ThrfsTer?
NM_201570.3:c.1639_1654del (CACNB2)	NP_963864.1:p.His547ThrfsTer?
NM_201571.4:c.1699_1714del (CACNB2)	NP_963865.2:p.His567ThrfsTer?
NM_201572.4:c.1627_1642del (CACNB2)	NP_963866.2:p.His543ThrfsTer?
NM_201590.3:c.1621_1636del (CACNB2) MANE Plus Clinical	NP_963884.2:p.His541ThrfsTer?
NM_201593.3:c.1669_1684del (CACNB2)	NP_963887.2:p.His557ThrfsTer?
NM_201596.3:c.1783_1798del (CACNB2) MANE Select	NP_963890.2:p.His595ThrfsTer?
NM_201597.3:c.1711_1726del (CACNB2)	NP_963891.1:p.His571ThrfsTer?