Canonical Allele Identifier: CA925480383

Gene: CACNB2

Linked Data

• gnomAD v3: 10-18365182-C-CTTTTTTTTT
• gnomAD v4: 10-18365182-C-CTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18365183_18365184insTTTTTTTTT , CM000672.2:g.18365183_18365184insTTTTTTTTT	GRCh38
NC_000010.10:g.18654112_18654113insTTTTTTTTT , CM000672.1:g.18654112_18654113insTTTTTTTTT	GRCh37
NC_000010.9:g.18694118_18694119insTTTTTTTTT	NCBI36
NG_016195.1:g.229507_229508insTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000377319.9:c.49-36741_49-36740insTTTTTTTTT	ENSP00000366536.3:n.49-36741_49-36740insTTTTTTTTT
ENST00000645287.2:c.130-36741_130-36740insTTTTTTTTT	ENSP00000496203.1:n.130-36741_130-36740insTTTTTTTTT
ENST00000282343.13:c.130-36741_130-36740insTTTTTTTTT	ENSP00000282343.8:n.130-36741_130-36740insTTTTTTTTT
ENST00000324631.13:c.214-36741_214-36740insTTTTTTTTT MANE Select	ENSP00000320025.8:n.214-36741_214-36740insTTTTTTTTT
ENST00000377319.8:c.49-36741_49-36740insTTTTTTTTT	ENSP00000366536.3:n.49-36741_49-36740insTTTTTTTTT
ENST00000377329.10:c.51+24206_51+24207insTTTTTTTTT MANE Plus Clinical	ENSP00000366546.4:n.51+24206_51+24207insTTTTTTTTT
ENST00000377331.8:c.49-36741_49-36740insTTTTTTTTT	ENSP00000366548.4:n.49-36741_49-36740insTTTTTTTTT
ENST00000643096.2:c.130-36741_130-36740insTTTTTTTTT	ENSP00000494209.2:n.130-36741_130-36740insTTTTTTTTT
ENST00000644004.1:c.130-36741_130-36740insTTTTTTTTT	ENSP00000495509.1:n.130-36741_130-36740insTTTTTTTTT
ENST00000645287.1:c.130-36741_130-36740insTTTTTTTTT	ENSP00000496203.1:n.130-36741_130-36740insTTTTTTTTT
ENST00000282343.12:c.130-36741_130-36740insTTTTTTTTT	ENSP00000282343.8:n.130-36741_130-36740insTTTTTTTTT
ENST00000324631.11:c.214-36741_214-36740insTTTTTTTTT	ENSP00000320025.7:n.214-36741_214-36740insTTTTTTTTT
ENST00000352115.10:c.214-36741_214-36740insTTTTTTTTT	ENSP00000344474.6:n.214-36741_214-36740insTTTTTTTTT
ENST00000377319.7:c.49-36741_49-36740insTTTTTTTTT	ENSP00000366536.3:n.49-36741_49-36740insTTTTTTTTT
ENST00000377328.5:c.214-36741_214-36740insTTTTTTTTT	ENSP00000366545.1:n.214-36741_214-36740insTTTTTTTTT
ENST00000377329.8:c.51+24206_51+24207insTTTTTTTTT	ENSP00000366546.4:n.51+24206_51+24207insTTTTTTTTT
ENST00000377331.6:c.130-36741_130-36740insTTTTTTTTT	ENSP00000366548.2:n.130-36741_130-36740insTTTTTTTTT
ENST00000396576.6:c.49-36741_49-36740insTTTTTTTTT	ENSP00000379821.2:n.49-36741_49-36740insTTTTTTTTT
ENST00000498816.1:n.261+24206_261+24207insTTTTTTTTT
ENST00000612134.4:c.51+24206_51+24207insTTTTTTTTT	ENSP00000480563.1:n.51+24206_51+24207insTTTTTTTTT
ENST00000612743.1:c.-41+24206_-41+24207insTTTTTTTTT	ENSP00000478676.1:n.-41+24206_-41+24207insTTTTTTTTT
ENST00000615785.4:c.49-36741_49-36740insTTTTTTTTT	ENSP00000480260.1:n.49-36741_49-36740insTTTTTTTTT
ENST00000617363.4:c.49-36741_49-36740insTTTTTTTTT	ENSP00000479756.1:n.49-36741_49-36740insTTTTTTTTT
NM_000724.3:c.49-36741_49-36740insTTTTTTTTT	NP_000715.2:n.49-36741_49-36740insTTTTTTTTT
NM_001167945.1:c.130-36741_130-36740insTTTTTTTTT	NP_001161417.1:n.130-36741_130-36740insTTTTTTTTT
NM_201571.3:c.130-36741_130-36740insTTTTTTTTT	NP_963865.2:n.130-36741_130-36740insTTTTTTTTT
NM_201572.3:c.130-36741_130-36740insTTTTTTTTT	NP_963866.2:n.130-36741_130-36740insTTTTTTTTT
NM_201590.2:c.51+24206_51+24207insTTTTTTTTT	NP_963884.2:n.51+24206_51+24207insTTTTTTTTT
NM_201593.2:c.214-36741_214-36740insTTTTTTTTT	NP_963887.2:n.214-36741_214-36740insTTTTTTTTT
NM_201596.2:c.214-36741_214-36740insTTTTTTTTT	NP_963890.2:n.214-36741_214-36740insTTTTTTTTT
NM_201597.2:c.214-36741_214-36740insTTTTTTTTT	NP_963891.1:n.214-36741_214-36740insTTTTTTTTT
XM_011519659.1:c.51+24206_51+24207insTTTTTTTTT	XP_011517961.1:n.51+24206_51+24207insTTTTTTTTT
XM_011519660.1:c.49-36741_49-36740insTTTTTTTTT	XP_011517962.1:n.49-36741_49-36740insTTTTTTTTT
NM_001330060.1:c.49-36741_49-36740insTTTTTTTTT	NP_001316989.1:n.49-36741_49-36740insTTTTTTTTT
XM_011519659.2:c.51+24206_51+24207insTTTTTTTTT	XP_011517961.1:n.51+24206_51+24207insTTTTTTTTT
XR_001747198.1:n.391-36741_391-36740insTTTTTTTTT
NM_000724.4:c.49-36741_49-36740insTTTTTTTTT	NP_000715.2:n.49-36741_49-36740insTTTTTTTTT
NM_001167945.2:c.130-36741_130-36740insTTTTTTTTT	NP_001161417.1:n.130-36741_130-36740insTTTTTTTTT
NM_001330060.2:c.49-36741_49-36740insTTTTTTTTT	NP_001316989.1:n.49-36741_49-36740insTTTTTTTTT
NM_201571.4:c.130-36741_130-36740insTTTTTTTTT	NP_963865.2:n.130-36741_130-36740insTTTTTTTTT
NM_201572.4:c.130-36741_130-36740insTTTTTTTTT	NP_963866.2:n.130-36741_130-36740insTTTTTTTTT
NM_201590.3:c.51+24206_51+24207insTTTTTTTTT MANE Plus Clinical	NP_963884.2:n.51+24206_51+24207insTTTTTTTTT
NM_201593.3:c.214-36741_214-36740insTTTTTTTTT	NP_963887.2:n.214-36741_214-36740insTTTTTTTTT
NM_201596.3:c.214-36741_214-36740insTTTTTTTTT MANE Select	NP_963890.2:n.214-36741_214-36740insTTTTTTTTT
NM_201597.3:c.214-36741_214-36740insTTTTTTTTT	NP_963891.1:n.214-36741_214-36740insTTTTTTTTT