Canonical Allele Identifier: CA1894063761
Gene: CACNB2 HGNC NCBI

Linked Data

dbSNP Id: rs2799573

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18312999T>G , CM000672.2:g.18312999T>G GRCh38
NC_000010.10:g.18601928T>G , CM000672.1:g.18601928T>G GRCh37
NC_000010.9:g.18641934T>G NCBI36
NG_016195.1:g.177323T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377319.9:c.48+51682T>G ENSP00000366536.3:n.48+51682T>G
ENST00000645287.2:c.130-88925T>G ENSP00000496203.1:n.130-88925T>G
ENST00000282343.13:c.130-88925T>G ENSP00000282343.8:n.130-88925T>G
ENST00000324631.13:c.214-88925T>G MANE Select ENSP00000320025.8:n.214-88925T>G
ENST00000377319.8:c.48+51682T>G ENSP00000366536.3:n.48+51682T>G
ENST00000377331.8:c.48+51682T>G ENSP00000366548.4:n.48+51682T>G
ENST00000643096.2:c.130-88925T>G ENSP00000494209.2:n.130-88925T>G
ENST00000644004.1:c.130-88925T>G ENSP00000495509.1:n.130-88925T>G
ENST00000645287.1:c.130-88925T>G ENSP00000496203.1:n.130-88925T>G
ENST00000651896.1:n.108-4905T>G
ENST00000282343.12:c.130-88925T>G ENSP00000282343.8:n.130-88925T>G
ENST00000324631.11:c.214-88925T>G ENSP00000320025.7:n.214-88925T>G
ENST00000352115.10:c.214-88925T>G ENSP00000344474.6:n.214-88925T>G
ENST00000377319.7:c.48+51682T>G ENSP00000366536.3:n.48+51682T>G
ENST00000377328.5:c.214-88925T>G ENSP00000366545.1:n.214-88925T>G
ENST00000377331.6:c.130-88925T>G ENSP00000366548.2:n.130-88925T>G
ENST00000396576.6:c.48+51682T>G ENSP00000379821.2:n.48+51682T>G
ENST00000615785.4:c.48+51682T>G ENSP00000480260.1:n.48+51682T>G
ENST00000617363.4:c.48+51682T>G ENSP00000479756.1:n.48+51682T>G
NM_000724.3:c.48+51682T>G NP_000715.2:n.48+51682T>G
NM_001167945.1:c.130-88925T>G NP_001161417.1:n.130-88925T>G
NM_201571.3:c.130-88925T>G NP_963865.2:n.130-88925T>G
NM_201572.3:c.130-88925T>G NP_963866.2:n.130-88925T>G
NM_201593.2:c.214-88925T>G NP_963887.2:n.214-88925T>G
NM_201596.2:c.214-88925T>G NP_963890.2:n.214-88925T>G
NM_201597.2:c.214-88925T>G NP_963891.1:n.214-88925T>G
XM_011519660.1:c.48+51682T>G XP_011517962.1:n.48+51682T>G
NM_001330060.1:c.48+51682T>G NP_001316989.1:n.48+51682T>G
XR_001747198.1:n.391-88925T>G
NM_000724.4:c.48+51682T>G NP_000715.2:n.48+51682T>G
NM_001167945.2:c.130-88925T>G NP_001161417.1:n.130-88925T>G
NM_001330060.2:c.48+51682T>G NP_001316989.1:n.48+51682T>G
NM_201571.4:c.130-88925T>G NP_963865.2:n.130-88925T>G
NM_201572.4:c.130-88925T>G NP_963866.2:n.130-88925T>G
NM_201593.3:c.214-88925T>G NP_963887.2:n.214-88925T>G
NM_201596.3:c.214-88925T>G MANE Select NP_963890.2:n.214-88925T>G
NM_201597.3:c.214-88925T>G NP_963891.1:n.214-88925T>G