Canonical Allele Identifier: CA5429860
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18527610G>A , CM000672.2:g.18527610G>A GRCh38
NC_000010.10:g.18816539G>A , CM000672.1:g.18816539G>A GRCh37
NC_000010.9:g.18856545G>A NCBI36
NG_016195.1:g.391934G>A

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.967G>A (CACNB2) MANE Select NP_963890.2:p.Ala323Thr
ENST00000324631.13:c.967G>A (CACNB2) MANE Select ENSP00000320025.8:p.Ala323Thr
NM_201590.3:c.805G>A (CACNB2) MANE Plus Clinical NP_963884.2:p.Ala269Thr
ENST00000377329.10:c.805G>A (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Ala269Thr
NM_000724.3:c.802G>A (CACNB2) NP_000715.2:p.Ala268Thr
NM_000724.4:c.802G>A (CACNB2) NP_000715.2:p.Ala268Thr
NM_001167945.1:c.769G>A (CACNB2) NP_001161417.1:p.Ala257Thr
NM_001167945.2:c.769G>A (CACNB2) NP_001161417.1:p.Ala257Thr
NM_001330060.1:c.688G>A (CACNB2) NP_001316989.1:p.Ala230Thr
NM_001330060.2:c.688G>A (CACNB2) NP_001316989.1:p.Ala230Thr
NM_201570.2:c.823G>A (CACNB2) NP_963864.1:p.Ala275Thr
NM_201570.3:c.823G>A (CACNB2) NP_963864.1:p.Ala275Thr
NM_201571.3:c.883G>A (CACNB2) NP_963865.2:p.Ala295Thr
NM_201571.4:c.883G>A (CACNB2) NP_963865.2:p.Ala295Thr
NM_201572.3:c.811G>A (CACNB2) NP_963866.2:p.Ala271Thr
NM_201572.4:c.811G>A (CACNB2) NP_963866.2:p.Ala271Thr
NM_201590.2:c.805G>A (CACNB2) NP_963884.2:p.Ala269Thr
NM_201593.2:c.853G>A (CACNB2) NP_963887.2:p.Ala285Thr
NM_201593.3:c.853G>A (CACNB2) NP_963887.2:p.Ala285Thr
NM_201596.2:c.967G>A (CACNB2) NP_963890.2:p.Ala323Thr
NM_201597.2:c.895G>A (CACNB2) NP_963891.1:p.Ala299Thr
NM_201597.3:c.895G>A (CACNB2) NP_963891.1:p.Ala299Thr
ENST00000282343.12:c.883G>A (CACNB2) ENSP00000282343.8:p.Ala295Thr
ENST00000282343.13:c.883G>A (CACNB2) ENSP00000282343.8:p.Ala295Thr
ENST00000324631.11:c.967G>A (CACNB2) ENSP00000320025.7:p.Ala323Thr
ENST00000352115.10:c.895G>A (CACNB2) ENSP00000344474.6:p.Ala299Thr
ENST00000377315.4:c.823G>A (CACNB2) ENSP00000366532.4:p.Ala275Thr
ENST00000377315.5:c.823G>A (CACNB2) ENSP00000366532.4:p.Ala275Thr
ENST00000377315.6:c.823G>A (CACNB2) ENSP00000366532.4:p.Ala275Thr
ENST00000377319.7:c.688G>A (CACNB2) ENSP00000366536.3:p.Ala230Thr
ENST00000377319.8:c.688G>A (CACNB2) ENSP00000366536.3:p.Ala230Thr
ENST00000377319.9:c.688G>A (CACNB2) ENSP00000366536.3:p.Ala230Thr
ENST00000377328.5:c.457-8491G>A (CACNB2) ENSP00000366545.1:n.457-8491G>A
ENST00000377329.8:c.805G>A (CACNB2) ENSP00000366546.4:p.Ala269Thr
ENST00000377331.6:c.811G>A (CACNB2) ENSP00000366548.2:p.Ala271Thr
ENST00000377331.8:c.688G>A (CACNB2) ENSP00000366548.4:p.Ala230Thr
ENST00000396576.6:c.802G>A (CACNB2) ENSP00000379821.2:p.Ala268Thr
ENST00000612134.4:c.671G>A (CACNB2) ENSP00000480563.1:n.671G>A
ENST00000612743.1:c.35-11654G>A (CACNB2) ENSP00000478676.1:n.35-11654G>A
ENST00000615785.4:c.292-8491G>A (CACNB2) ENSP00000480260.1:n.292-8491G>A
ENST00000617363.4:c.730G>A (CACNB2) ENSP00000479756.1:p.Ala244Thr
ENST00000643096.2:c.769G>A (CACNB2) ENSP00000494209.2:p.Ala257Thr
ENST00000644004.1:c.*108G>A (CACNB2) ENSP00000495509.1:n.*108G>A
ENST00000645287.1:c.811G>A (CACNB2) ENSP00000496203.1:p.Ala271Thr
ENST00000645287.2:c.811G>A (CACNB2) ENSP00000496203.1:p.Ala271Thr
ENST00000647168.2:c.*108G>A (CACNB2) ENSP00000495854.2:n.*108G>A
ENST00000650685.1:c.709G>A (CACNB2) ENSP00000498460.1:p.Ala237Thr
ENST00000651330.1:c.*241G>A (CACNB2) ENSP00000498457.1:n.*241G>A
ENST00000651468.1:c.524G>A (CACNB2) ENSP00000498352.1:n.524G>A
ENST00000651928.1:c.*206G>A (CACNB2) ENSP00000499177.1:n.*206G>A
ENST00000652391.1:c.787G>A (CACNB2) ENSP00000498938.1:p.Ala263Thr
ENST00000652478.1:c.*67G>A (CACNB2) ENSP00000498812.1:n.*67G>A
XM_005252588.2:c.709G>A (CACNB2) XP_005252645.1:p.Ala237Thr
XM_005252588.4:c.709G>A (CACNB2) XP_005252645.1:p.Ala237Thr
XM_005252591.2:c.127G>A (CACNB2) XP_005252648.1:p.Ala43Thr
XM_005252591.3:c.127G>A (CACNB2) XP_005252648.1:p.Ala43Thr
XM_006717502.2:c.787G>A (CACNB2) XP_006717565.1:p.Ala263Thr
XM_006717502.3:c.787G>A (CACNB2) XP_006717565.1:p.Ala263Thr
XM_011519659.1:c.733G>A (CACNB2) XP_011517961.1:p.Ala245Thr
XM_011519659.2:c.733G>A (CACNB2) XP_011517961.1:p.Ala245Thr
XM_011519660.1:c.688G>A (CACNB2) XP_011517962.1:p.Ala230Thr
XM_017016625.1:c.127G>A (CACNB2) XP_016872114.1:p.Ala43Thr
XR_001747060.1:n.2424-13950C>T (NSUN6)
XR_001747198.1:n.1092G>A (CACNB2)
XR_930717.1:n.72+11584C>T
XR_930718.1:n.1033+5427C>T