Canonical Allele Identifier: CA925480332

Gene: CACNB2

Linked Data

• dbSNP Id: rs1354281842
• gnomAD v3: 10-18365018-G-A
• gnomAD v4: 10-18365018-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18365018G>A , CM000672.2:g.18365018G>A	GRCh38
NC_000010.10:g.18653947G>A , CM000672.1:g.18653947G>A	GRCh37
NC_000010.9:g.18693953G>A	NCBI36
NG_016195.1:g.229342G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377319.9:c.49-36906G>A	ENSP00000366536.3:n.49-36906G>A
ENST00000645287.2:c.130-36906G>A	ENSP00000496203.1:n.130-36906G>A
ENST00000282343.13:c.130-36906G>A	ENSP00000282343.8:n.130-36906G>A
ENST00000324631.13:c.214-36906G>A MANE Select	ENSP00000320025.8:n.214-36906G>A
ENST00000377319.8:c.49-36906G>A	ENSP00000366536.3:n.49-36906G>A
ENST00000377329.10:c.51+24041G>A MANE Plus Clinical	ENSP00000366546.4:n.51+24041G>A
ENST00000377331.8:c.49-36906G>A	ENSP00000366548.4:n.49-36906G>A
ENST00000643096.2:c.130-36906G>A	ENSP00000494209.2:n.130-36906G>A
ENST00000644004.1:c.130-36906G>A	ENSP00000495509.1:n.130-36906G>A
ENST00000645287.1:c.130-36906G>A	ENSP00000496203.1:n.130-36906G>A
ENST00000282343.12:c.130-36906G>A	ENSP00000282343.8:n.130-36906G>A
ENST00000324631.11:c.214-36906G>A	ENSP00000320025.7:n.214-36906G>A
ENST00000352115.10:c.214-36906G>A	ENSP00000344474.6:n.214-36906G>A
ENST00000377319.7:c.49-36906G>A	ENSP00000366536.3:n.49-36906G>A
ENST00000377328.5:c.214-36906G>A	ENSP00000366545.1:n.214-36906G>A
ENST00000377329.8:c.51+24041G>A	ENSP00000366546.4:n.51+24041G>A
ENST00000377331.6:c.130-36906G>A	ENSP00000366548.2:n.130-36906G>A
ENST00000396576.6:c.49-36906G>A	ENSP00000379821.2:n.49-36906G>A
ENST00000498816.1:n.261+24041G>A
ENST00000612134.4:c.51+24041G>A	ENSP00000480563.1:n.51+24041G>A
ENST00000612743.1:c.-41+24041G>A	ENSP00000478676.1:n.-41+24041G>A
ENST00000615785.4:c.49-36906G>A	ENSP00000480260.1:n.49-36906G>A
ENST00000617363.4:c.49-36906G>A	ENSP00000479756.1:n.49-36906G>A
NM_000724.3:c.49-36906G>A	NP_000715.2:n.49-36906G>A
NM_001167945.1:c.130-36906G>A	NP_001161417.1:n.130-36906G>A
NM_201571.3:c.130-36906G>A	NP_963865.2:n.130-36906G>A
NM_201572.3:c.130-36906G>A	NP_963866.2:n.130-36906G>A
NM_201590.2:c.51+24041G>A	NP_963884.2:n.51+24041G>A
NM_201593.2:c.214-36906G>A	NP_963887.2:n.214-36906G>A
NM_201596.2:c.214-36906G>A	NP_963890.2:n.214-36906G>A
NM_201597.2:c.214-36906G>A	NP_963891.1:n.214-36906G>A
XM_011519659.1:c.51+24041G>A	XP_011517961.1:n.51+24041G>A
XM_011519660.1:c.49-36906G>A	XP_011517962.1:n.49-36906G>A
NM_001330060.1:c.49-36906G>A	NP_001316989.1:n.49-36906G>A
XM_011519659.2:c.51+24041G>A	XP_011517961.1:n.51+24041G>A
XR_001747198.1:n.391-36906G>A
NM_000724.4:c.49-36906G>A	NP_000715.2:n.49-36906G>A
NM_001167945.2:c.130-36906G>A	NP_001161417.1:n.130-36906G>A
NM_001330060.2:c.49-36906G>A	NP_001316989.1:n.49-36906G>A
NM_201571.4:c.130-36906G>A	NP_963865.2:n.130-36906G>A
NM_201572.4:c.130-36906G>A	NP_963866.2:n.130-36906G>A
NM_201590.3:c.51+24041G>A MANE Plus Clinical	NP_963884.2:n.51+24041G>A
NM_201593.3:c.214-36906G>A	NP_963887.2:n.214-36906G>A
NM_201596.3:c.214-36906G>A MANE Select	NP_963890.2:n.214-36906G>A
NM_201597.3:c.214-36906G>A	NP_963891.1:n.214-36906G>A