Canonical Allele Identifier: CA1894036622
Gene: CACNB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18258085_18258086delinsAT , CM000672.2:g.18258085_18258086delinsAT GRCh38
NC_000010.10:g.18547014_18547015delinsAT , CM000672.1:g.18547014_18547015delinsAT GRCh37
NC_000010.9:g.18587020_18587021delinsAT NCBI36
NG_016195.1:g.122409_122410delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000645287.2:c.129+107110_129+107111delinsAT ENSP00000496203.1:n.129+107110_129+107111...
ENST00000282343.13:c.129+107110_129+107111delinsAT ENSP00000282343.8:n.129+107110_129+107111...
ENST00000324631.13:c.213+107110_213+107111delinsAT MANE Select ENSP00000320025.8:n.213+107110_213+107111...
ENST00000643096.2:c.129+107110_129+107111delinsAT ENSP00000494209.2:n.129+107110_129+107111...
ENST00000644004.1:c.129+107110_129+107111delinsAT ENSP00000495509.1:n.129+107110_129+107111...
ENST00000645287.1:c.129+107110_129+107111delinsAT ENSP00000496203.1:n.129+107110_129+107111...
ENST00000282343.12:c.129+107110_129+107111delinsAT ENSP00000282343.8:n.129+107110_129+107111...
ENST00000324631.11:c.213+107110_213+107111delinsAT ENSP00000320025.7:n.213+107110_213+107111...
ENST00000352115.10:c.213+107110_213+107111delinsAT ENSP00000344474.6:n.213+107110_213+107111...
ENST00000377328.5:c.213+107110_213+107111delinsAT ENSP00000366545.1:n.213+107110_213+107111...
ENST00000377331.6:c.129+107110_129+107111delinsAT ENSP00000366548.2:n.129+107110_129+107111...
NM_001167945.1:c.129+107110_129+107111delinsAT NP_001161417.1:n.129+107110_129+107111del...
NM_201571.3:c.129+107110_129+107111delinsAT NP_963865.2:n.129+107110_129+107111delins...
NM_201572.3:c.129+107110_129+107111delinsAT NP_963866.2:n.129+107110_129+107111delins...
NM_201593.2:c.213+107110_213+107111delinsAT NP_963887.2:n.213+107110_213+107111delins...
NM_201596.2:c.213+107110_213+107111delinsAT NP_963890.2:n.213+107110_213+107111delins...
NM_201597.2:c.213+107110_213+107111delinsAT NP_963891.1:n.213+107110_213+107111delins...
XR_001747198.1:n.390+107110_390+107111delinsAT
XR_001747681.1:n.340-766_340-765delinsAT
NM_001167945.2:c.129+107110_129+107111delinsAT NP_001161417.1:n.129+107110_129+107111del...
NM_201571.4:c.129+107110_129+107111delinsAT NP_963865.2:n.129+107110_129+107111delins...
NM_201572.4:c.129+107110_129+107111delinsAT NP_963866.2:n.129+107110_129+107111delins...
NM_201593.3:c.213+107110_213+107111delinsAT NP_963887.2:n.213+107110_213+107111delins...
NM_201596.3:c.213+107110_213+107111delinsAT MANE Select NP_963890.2:n.213+107110_213+107111delins...
NM_201597.3:c.213+107110_213+107111delinsAT NP_963891.1:n.213+107110_213+107111delins...