Canonical Allele Identifier: CA376071678
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18539408A>T , CM000672.2:g.18539408A>T GRCh38
NC_000010.10:g.18828337A>T , CM000672.1:g.18828337A>T GRCh37
NC_000010.9:g.18868343A>T NCBI36
NG_016195.1:g.403732A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.1523A>T (CACNB2) ENSP00000366532.4:p.Asp508Val
ENST00000377319.9:c.1388A>T (CACNB2) ENSP00000366536.3:p.Asp463Val
ENST00000645287.2:c.1511A>T (CACNB2) ENSP00000496203.1:p.Asp504Val
ENST00000282343.13:c.1583A>T (CACNB2) ENSP00000282343.8:p.Asp528Val
ENST00000324631.13:c.1667A>T (CACNB2) MANE Select ENSP00000320025.8:p.Asp556Val
ENST00000377315.5:c.1523A>T (CACNB2) ENSP00000366532.4:p.Asp508Val
ENST00000377319.8:c.1388A>T (CACNB2) ENSP00000366536.3:p.Asp463Val
ENST00000377329.10:c.1505A>T (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asp502Val
ENST00000377331.8:c.1292A>T (CACNB2) ENSP00000366548.4:p.Asp431Val
ENST00000643096.2:c.1469A>T (CACNB2) ENSP00000494209.2:p.Asp490Val
ENST00000645287.1:c.1511A>T (CACNB2) ENSP00000496203.1:p.Asp504Val
ENST00000647168.2:c.*808A>T (CACNB2) ENSP00000495854.2:n.*808A>T
ENST00000650685.1:c.1409A>T (CACNB2) ENSP00000498460.1:p.Asp470Val
ENST00000651330.1:c.*941A>T (CACNB2) ENSP00000498457.1:n.*941A>T
ENST00000651468.1:c.1224A>T (CACNB2) ENSP00000498352.1:n.1224A>T
ENST00000651928.1:c.*906A>T (CACNB2) ENSP00000499177.1:n.*906A>T
ENST00000652391.1:c.1487A>T (CACNB2) ENSP00000498938.1:p.Asp496Val
ENST00000652478.1:c.*767A>T (CACNB2) ENSP00000498812.1:n.*767A>T
ENST00000282343.12:c.1583A>T (CACNB2) ENSP00000282343.8:p.Asp528Val
ENST00000324631.11:c.1667A>T (CACNB2) ENSP00000320025.7:p.Asp556Val
ENST00000352115.10:c.1595A>T (CACNB2) ENSP00000344474.6:p.Asp532Val
ENST00000377315.4:c.1523A>T (CACNB2) ENSP00000366532.4:p.Asp508Val
ENST00000377319.7:c.1388A>T (CACNB2) ENSP00000366536.3:p.Asp463Val
ENST00000377328.5:c.917A>T (CACNB2) ENSP00000366545.1:p.Asp306Val
ENST00000377329.8:c.1505A>T (CACNB2) ENSP00000366546.4:p.Asp502Val
ENST00000377331.6:c.1511A>T (CACNB2) ENSP00000366548.2:p.Asp504Val
ENST00000396576.6:c.1502A>T (CACNB2) ENSP00000379821.2:p.Asp501Val
ENST00000612134.4:c.1371A>T (CACNB2) ENSP00000480563.1:n.1371A>T
ENST00000612743.1:c.179A>T (CACNB2) ENSP00000478676.1:p.Asp60Val
ENST00000615785.4:c.752A>T (CACNB2) ENSP00000480260.1:p.Asp251Val
ENST00000617363.4:c.1430A>T (CACNB2) ENSP00000479756.1:p.Asp477Val
NM_000724.3:c.1502A>T (CACNB2) NP_000715.2:p.Asp501Val
NM_001167945.1:c.1469A>T (CACNB2) NP_001161417.1:p.Asp490Val
NM_201570.2:c.1523A>T (CACNB2) NP_963864.1:p.Asp508Val
NM_201571.3:c.1583A>T (CACNB2) NP_963865.2:p.Asp528Val
NM_201572.3:c.1511A>T (CACNB2) NP_963866.2:p.Asp504Val
NM_201590.2:c.1505A>T (CACNB2) NP_963884.2:p.Asp502Val
NM_201593.2:c.1553A>T (CACNB2) NP_963887.2:p.Asp518Val
NM_201596.2:c.1667A>T (CACNB2) NP_963890.2:p.Asp556Val
NM_201597.2:c.1595A>T (CACNB2) NP_963891.1:p.Asp532Val
XM_005252588.2:c.1409A>T (CACNB2) XP_005252645.1:p.Asp470Val
XM_005252591.2:c.827A>T (CACNB2) XP_005252648.1:p.Asp276Val
XM_006717502.2:c.1487A>T (CACNB2) XP_006717565.1:p.Asp496Val
XM_011519659.1:c.1433A>T (CACNB2) XP_011517961.1:p.Asp478Val
XM_011519660.1:c.1388A>T (CACNB2) XP_011517962.1:p.Asp463Val
NM_001330060.1:c.1388A>T (CACNB2) NP_001316989.1:p.Asp463Val
XM_005252588.4:c.1409A>T (CACNB2) XP_005252645.1:p.Asp470Val
XM_005252591.3:c.827A>T (CACNB2) XP_005252648.1:p.Asp276Val
XM_006717502.3:c.1487A>T (CACNB2) XP_006717565.1:p.Asp496Val
XM_011519659.2:c.1433A>T (CACNB2) XP_011517961.1:p.Asp478Val
XM_017016625.1:c.827A>T (CACNB2) XP_016872114.1:p.Asp276Val
XR_001747060.1:n.2423+2661T>A (NSUN6)
XR_001747198.1:n.1792A>T (CACNB2)
NM_000724.4:c.1502A>T (CACNB2) NP_000715.2:p.Asp501Val
NM_001167945.2:c.1469A>T (CACNB2) NP_001161417.1:p.Asp490Val
NM_001330060.2:c.1388A>T (CACNB2) NP_001316989.1:p.Asp463Val
NM_201570.3:c.1523A>T (CACNB2) NP_963864.1:p.Asp508Val
NM_201571.4:c.1583A>T (CACNB2) NP_963865.2:p.Asp528Val
NM_201572.4:c.1511A>T (CACNB2) NP_963866.2:p.Asp504Val
NM_201590.3:c.1505A>T (CACNB2) MANE Plus Clinical NP_963884.2:p.Asp502Val
NM_201593.3:c.1553A>T (CACNB2) NP_963887.2:p.Asp518Val
NM_201596.3:c.1667A>T (CACNB2) MANE Select NP_963890.2:p.Asp556Val
NM_201597.3:c.1595A>T (CACNB2) NP_963891.1:p.Asp532Val