Canonical Allele Identifier: CA925505630

Gene: CACNB2

Linked Data

• dbSNP Id: rs2037460430
• gnomAD v3: 10-18259888-C-A
• gnomAD v4: 10-18259888-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18259888C>A , CM000672.2:g.18259888C>A	GRCh38
NC_000010.10:g.18548817C>A , CM000672.1:g.18548817C>A	GRCh37
NC_000010.9:g.18588823C>A	NCBI36
NG_016195.1:g.124212C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645287.2:c.129+108913C>A	ENSP00000496203.1:n.129+108913C>A
ENST00000282343.13:c.129+108913C>A	ENSP00000282343.8:n.129+108913C>A
ENST00000324631.13:c.213+108913C>A MANE Select	ENSP00000320025.8:n.213+108913C>A
ENST00000643096.2:c.129+108913C>A	ENSP00000494209.2:n.129+108913C>A
ENST00000644004.1:c.129+108913C>A	ENSP00000495509.1:n.129+108913C>A
ENST00000645287.1:c.129+108913C>A	ENSP00000496203.1:n.129+108913C>A
ENST00000282343.12:c.129+108913C>A	ENSP00000282343.8:n.129+108913C>A
ENST00000324631.11:c.213+108913C>A	ENSP00000320025.7:n.213+108913C>A
ENST00000352115.10:c.213+108913C>A	ENSP00000344474.6:n.213+108913C>A
ENST00000377328.5:c.213+108913C>A	ENSP00000366545.1:n.213+108913C>A
ENST00000377331.6:c.129+108913C>A	ENSP00000366548.2:n.129+108913C>A
NM_001167945.1:c.129+108913C>A	NP_001161417.1:n.129+108913C>A
NM_201571.3:c.129+108913C>A	NP_963865.2:n.129+108913C>A
NM_201572.3:c.129+108913C>A	NP_963866.2:n.129+108913C>A
NM_201593.2:c.213+108913C>A	NP_963887.2:n.213+108913C>A
NM_201596.2:c.213+108913C>A	NP_963890.2:n.213+108913C>A
NM_201597.2:c.213+108913C>A	NP_963891.1:n.213+108913C>A
XR_001747198.1:n.390+108913C>A
XR_001747681.1:n.339+1278G>T
NM_001167945.2:c.129+108913C>A	NP_001161417.1:n.129+108913C>A
NM_201571.4:c.129+108913C>A	NP_963865.2:n.129+108913C>A
NM_201572.4:c.129+108913C>A	NP_963866.2:n.129+108913C>A
NM_201593.3:c.213+108913C>A	NP_963887.2:n.213+108913C>A
NM_201596.3:c.213+108913C>A MANE Select	NP_963890.2:n.213+108913C>A
NM_201597.3:c.213+108913C>A	NP_963891.1:n.213+108913C>A