Canonical Allele Identifier: CA1894036615
Gene: CACNB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.18258074_18258075delinsAC , CM000672.2:g.18258074_18258075delinsAC GRCh38
NC_000010.10:g.18547003_18547004delinsAC , CM000672.1:g.18547003_18547004delinsAC GRCh37
NC_000010.9:g.18587009_18587010delinsAC NCBI36
NG_016195.1:g.122398_122399delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000645287.2:c.129+107099_129+107100delinsAC ENSP00000496203.1:n.129+107099_129+107100delinsAC
ENST00000282343.13:c.129+107099_129+107100delinsAC ENSP00000282343.8:n.129+107099_129+107100delinsAC
ENST00000324631.13:c.213+107099_213+107100delinsAC MANE Select ENSP00000320025.8:n.213+107099_213+107100delinsAC
ENST00000643096.2:c.129+107099_129+107100delinsAC ENSP00000494209.2:n.129+107099_129+107100delinsAC
ENST00000644004.1:c.129+107099_129+107100delinsAC ENSP00000495509.1:n.129+107099_129+107100delinsAC
ENST00000645287.1:c.129+107099_129+107100delinsAC ENSP00000496203.1:n.129+107099_129+107100delinsAC
ENST00000282343.12:c.129+107099_129+107100delinsAC ENSP00000282343.8:n.129+107099_129+107100delinsAC
ENST00000324631.11:c.213+107099_213+107100delinsAC ENSP00000320025.7:n.213+107099_213+107100delinsAC
ENST00000352115.10:c.213+107099_213+107100delinsAC ENSP00000344474.6:n.213+107099_213+107100delinsAC
ENST00000377328.5:c.213+107099_213+107100delinsAC ENSP00000366545.1:n.213+107099_213+107100delinsAC
ENST00000377331.6:c.129+107099_129+107100delinsAC ENSP00000366548.2:n.129+107099_129+107100delinsAC
NM_001167945.1:c.129+107099_129+107100delinsAC NP_001161417.1:n.129+107099_129+107100delinsAC
NM_201571.3:c.129+107099_129+107100delinsAC NP_963865.2:n.129+107099_129+107100delinsAC
NM_201572.3:c.129+107099_129+107100delinsAC NP_963866.2:n.129+107099_129+107100delinsAC
NM_201593.2:c.213+107099_213+107100delinsAC NP_963887.2:n.213+107099_213+107100delinsAC
NM_201596.2:c.213+107099_213+107100delinsAC NP_963890.2:n.213+107099_213+107100delinsAC
NM_201597.2:c.213+107099_213+107100delinsAC NP_963891.1:n.213+107099_213+107100delinsAC
XR_001747198.1:n.390+107099_390+107100delinsAC
XR_001747681.1:n.340-755_340-754delinsGT
NM_001167945.2:c.129+107099_129+107100delinsAC NP_001161417.1:n.129+107099_129+107100delinsAC
NM_201571.4:c.129+107099_129+107100delinsAC NP_963865.2:n.129+107099_129+107100delinsAC
NM_201572.4:c.129+107099_129+107100delinsAC NP_963866.2:n.129+107099_129+107100delinsAC
NM_201593.3:c.213+107099_213+107100delinsAC NP_963887.2:n.213+107099_213+107100delinsAC
NM_201596.3:c.213+107099_213+107100delinsAC MANE Select NP_963890.2:n.213+107099_213+107100delinsAC
NM_201597.3:c.213+107099_213+107100delinsAC NP_963891.1:n.213+107099_213+107100delinsAC