Canonical Allele Identifier: CA5429599
Gene: CACNB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18498375G>A , CM000672.2:g.18498375G>A GRCh38
NC_000010.10:g.18787304G>A , CM000672.1:g.18787304G>A GRCh37
NC_000010.9:g.18827310G>A NCBI36
NG_016195.1:g.362699G>A

Transcript Alleles

HGVS Amino-acid Change
NM_201596.3:c.354G>A MANE Select NP_963890.2:p.Ala118=
ENST00000324631.13:c.354G>A MANE Select ENSP00000320025.8:p.Ala118=
NM_201590.3:c.192G>A MANE Plus Clinical NP_963884.2:p.Ala64=
ENST00000377329.10:c.192G>A MANE Plus Clinical ENSP00000366546.4:p.Ala64=
NM_000724.3:c.189G>A NP_000715.2:p.Ala63=
NM_000724.4:c.189G>A NP_000715.2:p.Ala63=
NM_001167945.1:c.270G>A NP_001161417.1:p.Ala90=
NM_001167945.2:c.270G>A NP_001161417.1:p.Ala90=
NM_001330060.1:c.189G>A NP_001316989.1:p.Ala63=
NM_001330060.2:c.189G>A NP_001316989.1:p.Ala63=
NM_201570.2:c.210G>A NP_963864.1:p.Ala70=
NM_201570.3:c.210G>A NP_963864.1:p.Ala70=
NM_201571.3:c.270G>A NP_963865.2:p.Ala90=
NM_201571.4:c.270G>A NP_963865.2:p.Ala90=
NM_201572.3:c.270G>A NP_963866.2:p.Ala90=
NM_201572.4:c.270G>A NP_963866.2:p.Ala90=
NM_201590.2:c.192G>A NP_963884.2:p.Ala64=
NM_201593.2:c.354G>A NP_963887.2:p.Ala118=
NM_201593.3:c.354G>A NP_963887.2:p.Ala118=
NM_201596.2:c.354G>A NP_963890.2:p.Ala118=
NM_201597.2:c.354G>A NP_963891.1:p.Ala118=
NM_201597.3:c.354G>A NP_963891.1:p.Ala118=
ENST00000282343.12:c.270G>A ENSP00000282343.8:p.Ala90=
ENST00000282343.13:c.270G>A ENSP00000282343.8:p.Ala90=
ENST00000324631.11:c.354G>A ENSP00000320025.7:p.Ala118=
ENST00000352115.10:c.354G>A ENSP00000344474.6:p.Ala118=
ENST00000377315.4:c.210G>A ENSP00000366532.4:p.Ala70=
ENST00000377315.5:c.210G>A ENSP00000366532.4:p.Ala70=
ENST00000377315.6:c.210G>A ENSP00000366532.4:p.Ala70=
ENST00000377319.7:c.189G>A ENSP00000366536.3:p.Ala63=
ENST00000377319.8:c.189G>A ENSP00000366536.3:p.Ala63=
ENST00000377319.9:c.189G>A ENSP00000366536.3:p.Ala63=
ENST00000377328.5:c.354G>A ENSP00000366545.1:p.Ala118=
ENST00000377329.8:c.192G>A ENSP00000366546.4:p.Ala64=
ENST00000377331.6:c.270G>A ENSP00000366548.2:p.Ala90=
ENST00000377331.8:c.189G>A ENSP00000366548.4:p.Ala63=
ENST00000396576.6:c.189G>A ENSP00000379821.2:p.Ala63=
ENST00000498816.1:n.402G>A
ENST00000612134.4:c.192G>A ENSP00000480563.1:p.Ala64=
ENST00000612743.1:c.35-40889G>A ENSP00000478676.1:n.35-40889G>A
ENST00000615785.4:c.189G>A ENSP00000480260.1:p.Ala63=
ENST00000617363.4:c.189G>A ENSP00000479756.1:p.Ala63=
ENST00000643096.2:c.270G>A ENSP00000494209.2:p.Ala90=
ENST00000643330.1:n.555G>A
ENST00000644004.1:c.270G>A ENSP00000495509.1:p.Ala90=
ENST00000645287.1:c.270G>A ENSP00000496203.1:p.Ala90=
ENST00000645287.2:c.270G>A ENSP00000496203.1:p.Ala90=
ENST00000647168.2:c.210G>A ENSP00000495854.2:p.Ala70=
ENST00000650685.1:c.210G>A ENSP00000498460.1:p.Ala70=
ENST00000651330.1:c.210G>A ENSP00000498457.1:p.Ala70=
ENST00000651468.1:c.102G>A ENSP00000498352.1:p.Ala34=
ENST00000651928.1:c.210G>A ENSP00000499177.1:p.Ala70=
ENST00000652391.1:c.174G>A ENSP00000498938.1:p.Ala58=
ENST00000652478.1:c.210G>A ENSP00000498812.1:p.Ala70=
XM_005252588.2:c.210G>A XP_005252645.1:p.Ala70=
XM_005252588.4:c.210G>A XP_005252645.1:p.Ala70=
XM_006717502.2:c.174G>A XP_006717565.1:p.Ala58=
XM_006717502.3:c.174G>A XP_006717565.1:p.Ala58=
XM_011519659.1:c.192G>A XP_011517961.1:p.Ala64=
XM_011519659.2:c.192G>A XP_011517961.1:p.Ala64=
XM_011519660.1:c.189G>A XP_011517962.1:p.Ala63=
XM_017016625.1:c.-435G>A XP_016872114.1:n.-435G>A
XR_001747198.1:n.531G>A