Canonical Allele Identifier: CA376071909
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539465C>A , CM000672.2:g.18539465C>A GRCh38
NC_000010.10:g.18828394C>A , CM000672.1:g.18828394C>A GRCh37
NC_000010.9:g.18868400C>A NCBI36
NG_016195.1:g.403789C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1580C>A (CACNB2) ENSP00000366532.4:p.Ser527Tyr
ENST00000377319.9:c.1445C>A (CACNB2) ENSP00000366536.3:p.Ser482Tyr
ENST00000645287.2:c.1568C>A (CACNB2) ENSP00000496203.1:p.Ser523Tyr
ENST00000282343.13:c.1640C>A (CACNB2) ENSP00000282343.8:p.Ser547Tyr
ENST00000324631.13:c.1724C>A (CACNB2) MANE Select ENSP00000320025.8:p.Ser575Tyr
ENST00000377315.5:c.1580C>A (CACNB2) ENSP00000366532.4:p.Ser527Tyr
ENST00000377319.8:c.1445C>A (CACNB2) ENSP00000366536.3:p.Ser482Tyr
ENST00000377329.10:c.1562C>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ser521Tyr
ENST00000377331.8:c.1349C>A (CACNB2) ENSP00000366548.4:p.Ser450Tyr
ENST00000643096.2:c.1526C>A (CACNB2) ENSP00000494209.2:p.Ser509Tyr
ENST00000645287.1:c.1568C>A (CACNB2) ENSP00000496203.1:p.Ser523Tyr
ENST00000647168.2:c.*865C>A (CACNB2) ENSP00000495854.2:n.*865C>A
ENST00000650685.1:c.1466C>A (CACNB2) ENSP00000498460.1:p.Ser489Tyr
ENST00000651330.1:c.*998C>A (CACNB2) ENSP00000498457.1:n.*998C>A
ENST00000651468.1:c.1281C>A (CACNB2) ENSP00000498352.1:n.1281C>A
ENST00000651928.1:c.*963C>A (CACNB2) ENSP00000499177.1:n.*963C>A
ENST00000652391.1:c.1544C>A (CACNB2) ENSP00000498938.1:p.Ser515Tyr
ENST00000652478.1:c.*824C>A (CACNB2) ENSP00000498812.1:n.*824C>A
ENST00000282343.12:c.1640C>A (CACNB2) ENSP00000282343.8:p.Ser547Tyr
ENST00000324631.11:c.1724C>A (CACNB2) ENSP00000320025.7:p.Ser575Tyr
ENST00000352115.10:c.1652C>A (CACNB2) ENSP00000344474.6:p.Ser551Tyr
ENST00000377315.4:c.1580C>A (CACNB2) ENSP00000366532.4:p.Ser527Tyr
ENST00000377319.7:c.1445C>A (CACNB2) ENSP00000366536.3:p.Ser482Tyr
ENST00000377328.5:c.974C>A (CACNB2) ENSP00000366545.1:p.Ser325Tyr
ENST00000377329.8:c.1562C>A (CACNB2) ENSP00000366546.4:p.Ser521Tyr
ENST00000377331.6:c.1568C>A (CACNB2) ENSP00000366548.2:p.Ser523Tyr
ENST00000396576.6:c.1559C>A (CACNB2) ENSP00000379821.2:p.Ser520Tyr
ENST00000612134.4:c.1428C>A (CACNB2) ENSP00000480563.1:n.1428C>A
ENST00000612743.1:c.236C>A (CACNB2) ENSP00000478676.1:p.Ser79Tyr
ENST00000615785.4:c.809C>A (CACNB2) ENSP00000480260.1:p.Ser270Tyr
ENST00000617363.4:c.1487C>A (CACNB2) ENSP00000479756.1:p.Ser496Tyr
NM_000724.3:c.1559C>A (CACNB2) NP_000715.2:p.Ser520Tyr
NM_001167945.1:c.1526C>A (CACNB2) NP_001161417.1:p.Ser509Tyr
NM_201570.2:c.1580C>A (CACNB2) NP_963864.1:p.Ser527Tyr
NM_201571.3:c.1640C>A (CACNB2) NP_963865.2:p.Ser547Tyr
NM_201572.3:c.1568C>A (CACNB2) NP_963866.2:p.Ser523Tyr
NM_201590.2:c.1562C>A (CACNB2) NP_963884.2:p.Ser521Tyr
NM_201593.2:c.1610C>A (CACNB2) NP_963887.2:p.Ser537Tyr
NM_201596.2:c.1724C>A (CACNB2) NP_963890.2:p.Ser575Tyr
NM_201597.2:c.1652C>A (CACNB2) NP_963891.1:p.Ser551Tyr
XM_005252588.2:c.1466C>A (CACNB2) XP_005252645.1:p.Ser489Tyr
XM_005252591.2:c.884C>A (CACNB2) XP_005252648.1:p.Ser295Tyr
XM_006717502.2:c.1544C>A (CACNB2) XP_006717565.1:p.Ser515Tyr
XM_011519659.1:c.1490C>A (CACNB2) XP_011517961.1:p.Ser497Tyr
XM_011519660.1:c.1445C>A (CACNB2) XP_011517962.1:p.Ser482Tyr
NM_001330060.1:c.1445C>A (CACNB2) NP_001316989.1:p.Ser482Tyr
XM_005252588.4:c.1466C>A (CACNB2) XP_005252645.1:p.Ser489Tyr
XM_005252591.3:c.884C>A (CACNB2) XP_005252648.1:p.Ser295Tyr
XM_006717502.3:c.1544C>A (CACNB2) XP_006717565.1:p.Ser515Tyr
XM_011519659.2:c.1490C>A (CACNB2) XP_011517961.1:p.Ser497Tyr
XM_017016625.1:c.884C>A (CACNB2) XP_016872114.1:p.Ser295Tyr
XR_001747060.1:n.2423+2604G>T (NSUN6)
XR_001747198.1:n.1849C>A (CACNB2)
NM_000724.4:c.1559C>A (CACNB2) NP_000715.2:p.Ser520Tyr
NM_001167945.2:c.1526C>A (CACNB2) NP_001161417.1:p.Ser509Tyr
NM_001330060.2:c.1445C>A (CACNB2) NP_001316989.1:p.Ser482Tyr
NM_201570.3:c.1580C>A (CACNB2) NP_963864.1:p.Ser527Tyr
NM_201571.4:c.1640C>A (CACNB2) NP_963865.2:p.Ser547Tyr
NM_201572.4:c.1568C>A (CACNB2) NP_963866.2:p.Ser523Tyr
NM_201590.3:c.1562C>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Ser521Tyr
NM_201593.3:c.1610C>A (CACNB2) NP_963887.2:p.Ser537Tyr
NM_201596.3:c.1724C>A (CACNB2) MANE Select NP_963890.2:p.Ser575Tyr
NM_201597.3:c.1652C>A (CACNB2) NP_963891.1:p.Ser551Tyr