Canonical Allele Identifier: CA203230590
Gene: CACNB2 HGNC NCBI
NSUN6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18518358A>C , CM000672.2:g.18518358A>C GRCh38
NC_000010.10:g.18807287A>C , CM000672.1:g.18807287A>C GRCh37
NC_000010.9:g.18847293A>C NCBI36
NG_016195.1:g.382682A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377315.6:c.683A>C (CACNB2) ENSP00000366532.4:p.Asp228Ala
ENST00000377319.9:c.548A>C (CACNB2) ENSP00000366536.3:p.Asp183Ala
ENST00000645287.2:c.671A>C (CACNB2) ENSP00000496203.1:p.Asp224Ala
ENST00000282343.13:c.743A>C (CACNB2) ENSP00000282343.8:p.Asp248Ala
ENST00000324631.13:c.827A>C (CACNB2) MANE Select ENSP00000320025.8:p.Asp276Ala
ENST00000377315.5:c.683A>C (CACNB2) ENSP00000366532.4:p.Asp228Ala
ENST00000377319.8:c.548A>C (CACNB2) ENSP00000366536.3:p.Asp183Ala
ENST00000377329.10:c.665A>C (CACNB2) MANE Plus Clinical ENSP00000366546.4:p.Asp222Ala
ENST00000377331.8:c.548A>C (CACNB2) ENSP00000366548.4:p.Asp183Ala
ENST00000643096.2:c.629A>C (CACNB2) ENSP00000494209.2:p.Asp210Ala
ENST00000643330.1:n.914A>C (CACNB2)
ENST00000644004.1:c.691A>C (CACNB2) ENSP00000495509.1:p.Met231Leu
ENST00000645287.1:c.671A>C (CACNB2) ENSP00000496203.1:p.Asp224Ala
ENST00000647168.2:c.631A>C (CACNB2) ENSP00000495854.2:p.Met211Leu
ENST00000650685.1:c.569A>C (CACNB2) ENSP00000498460.1:p.Asp190Ala
ENST00000651330.1:c.*101A>C (CACNB2) ENSP00000498457.1:n.*101A>C
ENST00000651468.1:c.384A>C (CACNB2) ENSP00000498352.1:n.384A>C
ENST00000651928.1:c.*66A>C (CACNB2) ENSP00000499177.1:n.*66A>C
ENST00000652391.1:c.647A>C (CACNB2) ENSP00000498938.1:p.Asp216Ala
ENST00000652478.1:c.683A>C (CACNB2) ENSP00000498812.1:p.Asp228Ala
ENST00000282343.12:c.743A>C (CACNB2) ENSP00000282343.8:p.Asp248Ala
ENST00000324631.11:c.827A>C (CACNB2) ENSP00000320025.7:p.Asp276Ala
ENST00000352115.10:c.755A>C (CACNB2) ENSP00000344474.6:p.Asp252Ala
ENST00000377315.4:c.683A>C (CACNB2) ENSP00000366532.4:p.Asp228Ala
ENST00000377319.7:c.548A>C (CACNB2) ENSP00000366536.3:p.Asp183Ala
ENST00000377328.5:c.457-17743A>C (CACNB2) ENSP00000366545.1:n.457-17743A>C
ENST00000377329.8:c.665A>C (CACNB2) ENSP00000366546.4:p.Asp222Ala
ENST00000377331.6:c.671A>C (CACNB2) ENSP00000366548.2:p.Asp224Ala
ENST00000396576.6:c.662A>C (CACNB2) ENSP00000379821.2:p.Asp221Ala
ENST00000612134.4:c.531A>C (CACNB2) ENSP00000480563.1:p.Ter177Cys
ENST00000612743.1:c.35-20906A>C (CACNB2) ENSP00000478676.1:n.35-20906A>C
ENST00000615785.4:c.292-17743A>C (CACNB2) ENSP00000480260.1:n.292-17743A>C
ENST00000617363.4:c.590A>C (CACNB2) ENSP00000479756.1:p.Asp197Ala
NM_000724.3:c.662A>C (CACNB2) NP_000715.2:p.Asp221Ala
NM_001167945.1:c.629A>C (CACNB2) NP_001161417.1:p.Asp210Ala
NM_201570.2:c.683A>C (CACNB2) NP_963864.1:p.Asp228Ala
NM_201571.3:c.743A>C (CACNB2) NP_963865.2:p.Asp248Ala
NM_201572.3:c.671A>C (CACNB2) NP_963866.2:p.Asp224Ala
NM_201590.2:c.665A>C (CACNB2) NP_963884.2:p.Asp222Ala
NM_201593.2:c.713A>C (CACNB2) NP_963887.2:p.Asp238Ala
NM_201596.2:c.827A>C (CACNB2) NP_963890.2:p.Asp276Ala
NM_201597.2:c.755A>C (CACNB2) NP_963891.1:p.Asp252Ala
XM_005252588.2:c.569A>C (CACNB2) XP_005252645.1:p.Asp190Ala
XM_005252591.2:c.-14A>C (CACNB2) XP_005252648.1:n.-14A>C
XM_006717502.2:c.647A>C (CACNB2) XP_006717565.1:p.Asp216Ala
XM_011519659.1:c.593A>C (CACNB2) XP_011517961.1:p.Asp198Ala
XM_011519660.1:c.548A>C (CACNB2) XP_011517962.1:p.Asp183Ala
XR_930717.1:n.73-4698T>G
XR_930718.1:n.1034-4698T>G
NM_001330060.1:c.548A>C (CACNB2) NP_001316989.1:p.Asp183Ala
XM_005252588.4:c.569A>C (CACNB2) XP_005252645.1:p.Asp190Ala
XM_005252591.3:c.-14A>C (CACNB2) XP_005252648.1:n.-14A>C
XM_006717502.3:c.647A>C (CACNB2) XP_006717565.1:p.Asp216Ala
XM_011519659.2:c.593A>C (CACNB2) XP_011517961.1:p.Asp198Ala
XM_017016625.1:c.-14A>C (CACNB2) XP_016872114.1:n.-14A>C
XR_001747060.1:n.2424-4698T>G (NSUN6)
XR_001747198.1:n.952A>C (CACNB2)
NM_000724.4:c.662A>C (CACNB2) NP_000715.2:p.Asp221Ala
NM_001167945.2:c.629A>C (CACNB2) NP_001161417.1:p.Asp210Ala
NM_001330060.2:c.548A>C (CACNB2) NP_001316989.1:p.Asp183Ala
NM_201570.3:c.683A>C (CACNB2) NP_963864.1:p.Asp228Ala
NM_201571.4:c.743A>C (CACNB2) NP_963865.2:p.Asp248Ala
NM_201572.4:c.671A>C (CACNB2) NP_963866.2:p.Asp224Ala
NM_201590.3:c.665A>C (CACNB2) MANE Plus Clinical NP_963884.2:p.Asp222Ala
NM_201593.3:c.713A>C (CACNB2) NP_963887.2:p.Asp238Ala
NM_201596.3:c.827A>C (CACNB2) MANE Select NP_963890.2:p.Asp276Ala
NM_201597.3:c.755A>C (CACNB2) NP_963891.1:p.Asp252Ala