Canonical Allele Identifier: CA376072099
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539507A>T , CM000672.2:g.18539507A>T GRCh38
NC_000010.10:g.18828436A>T , CM000672.1:g.18828436A>T GRCh37
NC_000010.9:g.18868442A>T NCBI36
NG_016195.1:g.403831A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1622A>T (CACNB2) ENSP00000366532.4:p.Asn541Ile
ENST00000377319.9:c.1487A>T (CACNB2) ENSP00000366536.3:p.Asn496Ile
ENST00000645287.2:c.1610A>T (CACNB2) ENSP00000496203.1:p.Asn537Ile
ENST00000282343.13:c.1682A>T (CACNB2) ENSP00000282343.8:p.Asn561Ile
ENST00000324631.13:c.1766A>T (CACNB2) MANE Select ENSP00000320025.8:p.Asn589Ile
ENST00000377315.5:c.1622A>T (CACNB2) ENSP00000366532.4:p.Asn541Ile
ENST00000377319.8:c.1487A>T (CACNB2) ENSP00000366536.3:p.Asn496Ile
ENST00000377329.10:c.1604A>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asn535Ile
ENST00000377331.8:c.1391A>T (CACNB2) ENSP00000366548.4:p.Asn464Ile
ENST00000643096.2:c.1568A>T (CACNB2) ENSP00000494209.2:p.Asn523Ile
ENST00000645287.1:c.1610A>T (CACNB2) ENSP00000496203.1:p.Asn537Ile
ENST00000647168.2:c.*907A>T (CACNB2) ENSP00000495854.2:n.*907A>T
ENST00000650685.1:c.1508A>T (CACNB2) ENSP00000498460.1:p.Asn503Ile
ENST00000651330.1:c.*1040A>T (CACNB2) ENSP00000498457.1:n.*1040A>T
ENST00000651468.1:c.1323A>T (CACNB2) ENSP00000498352.1:n.1323A>T
ENST00000651928.1:c.*1005A>T (CACNB2) ENSP00000499177.1:n.*1005A>T
ENST00000652391.1:c.1586A>T (CACNB2) ENSP00000498938.1:p.Asn529Ile
ENST00000652478.1:c.*866A>T (CACNB2) ENSP00000498812.1:n.*866A>T
ENST00000282343.12:c.1682A>T (CACNB2) ENSP00000282343.8:p.Asn561Ile
ENST00000324631.11:c.1766A>T (CACNB2) ENSP00000320025.7:p.Asn589Ile
ENST00000352115.10:c.1694A>T (CACNB2) ENSP00000344474.6:p.Asn565Ile
ENST00000377315.4:c.1622A>T (CACNB2) ENSP00000366532.4:p.Asn541Ile
ENST00000377319.7:c.1487A>T (CACNB2) ENSP00000366536.3:p.Asn496Ile
ENST00000377328.5:c.1016A>T (CACNB2) ENSP00000366545.1:p.Asn339Ile
ENST00000377329.8:c.1604A>T (CACNB2) ENSP00000366546.4:p.Asn535Ile
ENST00000377331.6:c.1610A>T (CACNB2) ENSP00000366548.2:p.Asn537Ile
ENST00000396576.6:c.1601A>T (CACNB2) ENSP00000379821.2:p.Asn534Ile
ENST00000612134.4:c.1470A>T (CACNB2) ENSP00000480563.1:n.1470A>T
ENST00000612743.1:c.278A>T (CACNB2) ENSP00000478676.1:p.Asn93Ile
ENST00000615785.4:c.851A>T (CACNB2) ENSP00000480260.1:p.Asn284Ile
ENST00000617363.4:c.1529A>T (CACNB2) ENSP00000479756.1:p.Asn510Ile
NM_000724.3:c.1601A>T (CACNB2) NP_000715.2:p.Asn534Ile
NM_001167945.1:c.1568A>T (CACNB2) NP_001161417.1:p.Asn523Ile
NM_201570.2:c.1622A>T (CACNB2) NP_963864.1:p.Asn541Ile
NM_201571.3:c.1682A>T (CACNB2) NP_963865.2:p.Asn561Ile
NM_201572.3:c.1610A>T (CACNB2) NP_963866.2:p.Asn537Ile
NM_201590.2:c.1604A>T (CACNB2) NP_963884.2:p.Asn535Ile
NM_201593.2:c.1652A>T (CACNB2) NP_963887.2:p.Asn551Ile
NM_201596.2:c.1766A>T (CACNB2) NP_963890.2:p.Asn589Ile
NM_201597.2:c.1694A>T (CACNB2) NP_963891.1:p.Asn565Ile
XM_005252588.2:c.1508A>T (CACNB2) XP_005252645.1:p.Asn503Ile
XM_005252591.2:c.926A>T (CACNB2) XP_005252648.1:p.Asn309Ile
XM_006717502.2:c.1586A>T (CACNB2) XP_006717565.1:p.Asn529Ile
XM_011519659.1:c.1532A>T (CACNB2) XP_011517961.1:p.Asn511Ile
XM_011519660.1:c.1487A>T (CACNB2) XP_011517962.1:p.Asn496Ile
NM_001330060.1:c.1487A>T (CACNB2) NP_001316989.1:p.Asn496Ile
XM_005252588.4:c.1508A>T (CACNB2) XP_005252645.1:p.Asn503Ile
XM_005252591.3:c.926A>T (CACNB2) XP_005252648.1:p.Asn309Ile
XM_006717502.3:c.1586A>T (CACNB2) XP_006717565.1:p.Asn529Ile
XM_011519659.2:c.1532A>T (CACNB2) XP_011517961.1:p.Asn511Ile
XM_017016625.1:c.926A>T (CACNB2) XP_016872114.1:p.Asn309Ile
XR_001747060.1:n.2423+2562T>A (NSUN6)
XR_001747198.1:n.1891A>T (CACNB2)
NM_000724.4:c.1601A>T (CACNB2) NP_000715.2:p.Asn534Ile
NM_001167945.2:c.1568A>T (CACNB2) NP_001161417.1:p.Asn523Ile
NM_001330060.2:c.1487A>T (CACNB2) NP_001316989.1:p.Asn496Ile
NM_201570.3:c.1622A>T (CACNB2) NP_963864.1:p.Asn541Ile
NM_201571.4:c.1682A>T (CACNB2) NP_963865.2:p.Asn561Ile
NM_201572.4:c.1610A>T (CACNB2) NP_963866.2:p.Asn537Ile
NM_201590.3:c.1604A>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Asn535Ile
NM_201593.3:c.1652A>T (CACNB2) NP_963887.2:p.Asn551Ile
NM_201596.3:c.1766A>T (CACNB2) MANE Select NP_963890.2:p.Asn589Ile
NM_201597.3:c.1694A>T (CACNB2) NP_963891.1:p.Asn565Ile