Canonical Allele Identifier: CA376071611
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539389T>A , CM000672.2:g.18539389T>A GRCh38
NC_000010.10:g.18828318T>A , CM000672.1:g.18828318T>A GRCh37
NC_000010.9:g.18868324T>A NCBI36
NG_016195.1:g.403713T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1504T>A (CACNB2) ENSP00000366532.4:p.Ser502Thr
ENST00000377319.9:c.1369T>A (CACNB2) ENSP00000366536.3:p.Ser457Thr
ENST00000645287.2:c.1492T>A (CACNB2) ENSP00000496203.1:p.Ser498Thr
ENST00000282343.13:c.1564T>A (CACNB2) ENSP00000282343.8:p.Ser522Thr
ENST00000324631.13:c.1648T>A (CACNB2) MANE Select ENSP00000320025.8:p.Ser550Thr
ENST00000377315.5:c.1504T>A (CACNB2) ENSP00000366532.4:p.Ser502Thr
ENST00000377319.8:c.1369T>A (CACNB2) ENSP00000366536.3:p.Ser457Thr
ENST00000377329.10:c.1486T>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ser496Thr
ENST00000377331.8:c.1273T>A (CACNB2) ENSP00000366548.4:p.Ser425Thr
ENST00000643096.2:c.1450T>A (CACNB2) ENSP00000494209.2:p.Ser484Thr
ENST00000645287.1:c.1492T>A (CACNB2) ENSP00000496203.1:p.Ser498Thr
ENST00000647168.2:c.*789T>A (CACNB2) ENSP00000495854.2:n.*789T>A
ENST00000650685.1:c.1390T>A (CACNB2) ENSP00000498460.1:p.Ser464Thr
ENST00000651330.1:c.*922T>A (CACNB2) ENSP00000498457.1:n.*922T>A
ENST00000651468.1:c.1205T>A (CACNB2) ENSP00000498352.1:n.1205T>A
ENST00000651928.1:c.*887T>A (CACNB2) ENSP00000499177.1:n.*887T>A
ENST00000652391.1:c.1468T>A (CACNB2) ENSP00000498938.1:p.Ser490Thr
ENST00000652478.1:c.*748T>A (CACNB2) ENSP00000498812.1:n.*748T>A
ENST00000282343.12:c.1564T>A (CACNB2) ENSP00000282343.8:p.Ser522Thr
ENST00000324631.11:c.1648T>A (CACNB2) ENSP00000320025.7:p.Ser550Thr
ENST00000352115.10:c.1576T>A (CACNB2) ENSP00000344474.6:p.Ser526Thr
ENST00000377315.4:c.1504T>A (CACNB2) ENSP00000366532.4:p.Ser502Thr
ENST00000377319.7:c.1369T>A (CACNB2) ENSP00000366536.3:p.Ser457Thr
ENST00000377328.5:c.898T>A (CACNB2) ENSP00000366545.1:p.Ser300Thr
ENST00000377329.8:c.1486T>A (CACNB2) ENSP00000366546.4:p.Ser496Thr
ENST00000377331.6:c.1492T>A (CACNB2) ENSP00000366548.2:p.Ser498Thr
ENST00000396576.6:c.1483T>A (CACNB2) ENSP00000379821.2:p.Ser495Thr
ENST00000612134.4:c.1352T>A (CACNB2) ENSP00000480563.1:n.1352T>A
ENST00000612743.1:c.160T>A (CACNB2) ENSP00000478676.1:p.Ser54Thr
ENST00000615785.4:c.733T>A (CACNB2) ENSP00000480260.1:p.Ser245Thr
ENST00000617363.4:c.1411T>A (CACNB2) ENSP00000479756.1:p.Ser471Thr
NM_000724.3:c.1483T>A (CACNB2) NP_000715.2:p.Ser495Thr
NM_001167945.1:c.1450T>A (CACNB2) NP_001161417.1:p.Ser484Thr
NM_201570.2:c.1504T>A (CACNB2) NP_963864.1:p.Ser502Thr
NM_201571.3:c.1564T>A (CACNB2) NP_963865.2:p.Ser522Thr
NM_201572.3:c.1492T>A (CACNB2) NP_963866.2:p.Ser498Thr
NM_201590.2:c.1486T>A (CACNB2) NP_963884.2:p.Ser496Thr
NM_201593.2:c.1534T>A (CACNB2) NP_963887.2:p.Ser512Thr
NM_201596.2:c.1648T>A (CACNB2) NP_963890.2:p.Ser550Thr
NM_201597.2:c.1576T>A (CACNB2) NP_963891.1:p.Ser526Thr
XM_005252588.2:c.1390T>A (CACNB2) XP_005252645.1:p.Ser464Thr
XM_005252591.2:c.808T>A (CACNB2) XP_005252648.1:p.Ser270Thr
XM_006717502.2:c.1468T>A (CACNB2) XP_006717565.1:p.Ser490Thr
XM_011519659.1:c.1414T>A (CACNB2) XP_011517961.1:p.Ser472Thr
XM_011519660.1:c.1369T>A (CACNB2) XP_011517962.1:p.Ser457Thr
NM_001330060.1:c.1369T>A (CACNB2) NP_001316989.1:p.Ser457Thr
XM_005252588.4:c.1390T>A (CACNB2) XP_005252645.1:p.Ser464Thr
XM_005252591.3:c.808T>A (CACNB2) XP_005252648.1:p.Ser270Thr
XM_006717502.3:c.1468T>A (CACNB2) XP_006717565.1:p.Ser490Thr
XM_011519659.2:c.1414T>A (CACNB2) XP_011517961.1:p.Ser472Thr
XM_017016625.1:c.808T>A (CACNB2) XP_016872114.1:p.Ser270Thr
XR_001747060.1:n.2423+2680A>T (NSUN6)
XR_001747198.1:n.1773T>A (CACNB2)
NM_000724.4:c.1483T>A (CACNB2) NP_000715.2:p.Ser495Thr
NM_001167945.2:c.1450T>A (CACNB2) NP_001161417.1:p.Ser484Thr
NM_001330060.2:c.1369T>A (CACNB2) NP_001316989.1:p.Ser457Thr
NM_201570.3:c.1504T>A (CACNB2) NP_963864.1:p.Ser502Thr
NM_201571.4:c.1564T>A (CACNB2) NP_963865.2:p.Ser522Thr
NM_201572.4:c.1492T>A (CACNB2) NP_963866.2:p.Ser498Thr
NM_201590.3:c.1486T>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Ser496Thr
NM_201593.3:c.1534T>A (CACNB2) NP_963887.2:p.Ser512Thr
NM_201596.3:c.1648T>A (CACNB2) MANE Select NP_963890.2:p.Ser550Thr
NM_201597.3:c.1576T>A (CACNB2) NP_963891.1:p.Ser526Thr