Canonical Allele Identifier: CA591901635

Gene: CACNB2

Linked Data

• dbSNP Id: rs1269261452
• gnomAD v2: 10-18547036-A-G
• gnomAD v3: 10-18258107-A-G
• gnomAD v4: 10-18258107-A-G
• MyVariant Identifiers: chr10:g.18547036A>G (hg19) ; chr10:g.18258107A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18258107A>G , CM000672.2:g.18258107A>G	GRCh38
NC_000010.10:g.18547036A>G , CM000672.1:g.18547036A>G	GRCh37
NC_000010.9:g.18587042A>G	NCBI36
NG_016195.1:g.122431A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000645287.2:c.129+107132A>G	ENSP00000496203.1:n.129+107132A>G
ENST00000282343.13:c.129+107132A>G	ENSP00000282343.8:n.129+107132A>G
ENST00000324631.13:c.213+107132A>G MANE Select	ENSP00000320025.8:n.213+107132A>G
ENST00000643096.2:c.129+107132A>G	ENSP00000494209.2:n.129+107132A>G
ENST00000644004.1:c.129+107132A>G	ENSP00000495509.1:n.129+107132A>G
ENST00000645287.1:c.129+107132A>G	ENSP00000496203.1:n.129+107132A>G
ENST00000282343.12:c.129+107132A>G	ENSP00000282343.8:n.129+107132A>G
ENST00000324631.11:c.213+107132A>G	ENSP00000320025.7:n.213+107132A>G
ENST00000352115.10:c.213+107132A>G	ENSP00000344474.6:n.213+107132A>G
ENST00000377328.5:c.213+107132A>G	ENSP00000366545.1:n.213+107132A>G
ENST00000377331.6:c.129+107132A>G	ENSP00000366548.2:n.129+107132A>G
NM_001167945.1:c.129+107132A>G	NP_001161417.1:n.129+107132A>G
NM_201571.3:c.129+107132A>G	NP_963865.2:n.129+107132A>G
NM_201572.3:c.129+107132A>G	NP_963866.2:n.129+107132A>G
NM_201593.2:c.213+107132A>G	NP_963887.2:n.213+107132A>G
NM_201596.2:c.213+107132A>G	NP_963890.2:n.213+107132A>G
NM_201597.2:c.213+107132A>G	NP_963891.1:n.213+107132A>G
XR_001747198.1:n.390+107132A>G
XR_001747681.1:n.340-787T>C
NM_001167945.2:c.129+107132A>G	NP_001161417.1:n.129+107132A>G
NM_201571.4:c.129+107132A>G	NP_963865.2:n.129+107132A>G
NM_201572.4:c.129+107132A>G	NP_963866.2:n.129+107132A>G
NM_201593.3:c.213+107132A>G	NP_963887.2:n.213+107132A>G
NM_201596.3:c.213+107132A>G MANE Select	NP_963890.2:n.213+107132A>G
NM_201597.3:c.213+107132A>G	NP_963891.1:n.213+107132A>G