Canonical Allele Identifier: CA591914681

Gene: CACNB2

Linked Data

• dbSNP Id: rs1432155926
• gnomAD v2: 10-18653898-C-CTTTTTTT
• MyVariant Identifiers: chr10:g.18653898_18653899insTTTTTTT (hg19) ; chr10:g.18364969_18364970insTTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18364970_18364971insTTTTTTT , CM000672.2:g.18364970_18364971insTTTTTTT	GRCh38
NC_000010.10:g.18653899_18653900insTTTTTTT , CM000672.1:g.18653899_18653900insTTTTTTT	GRCh37
NC_000010.9:g.18693905_18693906insTTTTTTT	NCBI36
NG_016195.1:g.229294_229295insTTTTTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000377319.9:c.49-36954_49-36953insTTTTTTT	ENSP00000366536.3:n.49-36954_49-36953insTTTTTTT
ENST00000645287.2:c.130-36954_130-36953insTTTTTTT	ENSP00000496203.1:n.130-36954_130-36953insTTTTTTT
ENST00000282343.13:c.130-36954_130-36953insTTTTTTT	ENSP00000282343.8:n.130-36954_130-36953insTTTTTTT
ENST00000324631.13:c.214-36954_214-36953insTTTTTTT MANE Select	ENSP00000320025.8:n.214-36954_214-36953insTTTTTTT
ENST00000377319.8:c.49-36954_49-36953insTTTTTTT	ENSP00000366536.3:n.49-36954_49-36953insTTTTTTT
ENST00000377329.10:c.51+23993_51+23994insTTTTTTT MANE Plus Clinical	ENSP00000366546.4:n.51+23993_51+23994insTTTTTTT
ENST00000377331.8:c.49-36954_49-36953insTTTTTTT	ENSP00000366548.4:n.49-36954_49-36953insTTTTTTT
ENST00000643096.2:c.130-36954_130-36953insTTTTTTT	ENSP00000494209.2:n.130-36954_130-36953insTTTTTTT
ENST00000644004.1:c.130-36954_130-36953insTTTTTTT	ENSP00000495509.1:n.130-36954_130-36953insTTTTTTT
ENST00000645287.1:c.130-36954_130-36953insTTTTTTT	ENSP00000496203.1:n.130-36954_130-36953insTTTTTTT
ENST00000282343.12:c.130-36954_130-36953insTTTTTTT	ENSP00000282343.8:n.130-36954_130-36953insTTTTTTT
ENST00000324631.11:c.214-36954_214-36953insTTTTTTT	ENSP00000320025.7:n.214-36954_214-36953insTTTTTTT
ENST00000352115.10:c.214-36954_214-36953insTTTTTTT	ENSP00000344474.6:n.214-36954_214-36953insTTTTTTT
ENST00000377319.7:c.49-36954_49-36953insTTTTTTT	ENSP00000366536.3:n.49-36954_49-36953insTTTTTTT
ENST00000377328.5:c.214-36954_214-36953insTTTTTTT	ENSP00000366545.1:n.214-36954_214-36953insTTTTTTT
ENST00000377329.8:c.51+23993_51+23994insTTTTTTT	ENSP00000366546.4:n.51+23993_51+23994insTTTTTTT
ENST00000377331.6:c.130-36954_130-36953insTTTTTTT	ENSP00000366548.2:n.130-36954_130-36953insTTTTTTT
ENST00000396576.6:c.49-36954_49-36953insTTTTTTT	ENSP00000379821.2:n.49-36954_49-36953insTTTTTTT
ENST00000498816.1:n.261+23993_261+23994insTTTTTTT
ENST00000612134.4:c.51+23993_51+23994insTTTTTTT	ENSP00000480563.1:n.51+23993_51+23994insTTTTTTT
ENST00000612743.1:c.-41+23993_-41+23994insTTTTTTT	ENSP00000478676.1:n.-41+23993_-41+23994insTTTTTTT
ENST00000615785.4:c.49-36954_49-36953insTTTTTTT	ENSP00000480260.1:n.49-36954_49-36953insTTTTTTT
ENST00000617363.4:c.49-36954_49-36953insTTTTTTT	ENSP00000479756.1:n.49-36954_49-36953insTTTTTTT
NM_000724.3:c.49-36954_49-36953insTTTTTTT	NP_000715.2:n.49-36954_49-36953insTTTTTTT
NM_001167945.1:c.130-36954_130-36953insTTTTTTT	NP_001161417.1:n.130-36954_130-36953insTTTTTTT
NM_201571.3:c.130-36954_130-36953insTTTTTTT	NP_963865.2:n.130-36954_130-36953insTTTTTTT
NM_201572.3:c.130-36954_130-36953insTTTTTTT	NP_963866.2:n.130-36954_130-36953insTTTTTTT
NM_201590.2:c.51+23993_51+23994insTTTTTTT	NP_963884.2:n.51+23993_51+23994insTTTTTTT
NM_201593.2:c.214-36954_214-36953insTTTTTTT	NP_963887.2:n.214-36954_214-36953insTTTTTTT
NM_201596.2:c.214-36954_214-36953insTTTTTTT	NP_963890.2:n.214-36954_214-36953insTTTTTTT
NM_201597.2:c.214-36954_214-36953insTTTTTTT	NP_963891.1:n.214-36954_214-36953insTTTTTTT
XM_011519659.1:c.51+23993_51+23994insTTTTTTT	XP_011517961.1:n.51+23993_51+23994insTTTTTTT
XM_011519660.1:c.49-36954_49-36953insTTTTTTT	XP_011517962.1:n.49-36954_49-36953insTTTTTTT
NM_001330060.1:c.49-36954_49-36953insTTTTTTT	NP_001316989.1:n.49-36954_49-36953insTTTTTTT
XM_011519659.2:c.51+23993_51+23994insTTTTTTT	XP_011517961.1:n.51+23993_51+23994insTTTTTTT
XR_001747198.1:n.391-36954_391-36953insTTTTTTT
NM_000724.4:c.49-36954_49-36953insTTTTTTT	NP_000715.2:n.49-36954_49-36953insTTTTTTT
NM_001167945.2:c.130-36954_130-36953insTTTTTTT	NP_001161417.1:n.130-36954_130-36953insTTTTTTT
NM_001330060.2:c.49-36954_49-36953insTTTTTTT	NP_001316989.1:n.49-36954_49-36953insTTTTTTT
NM_201571.4:c.130-36954_130-36953insTTTTTTT	NP_963865.2:n.130-36954_130-36953insTTTTTTT
NM_201572.4:c.130-36954_130-36953insTTTTTTT	NP_963866.2:n.130-36954_130-36953insTTTTTTT
NM_201590.3:c.51+23993_51+23994insTTTTTTT MANE Plus Clinical	NP_963884.2:n.51+23993_51+23994insTTTTTTT
NM_201593.3:c.214-36954_214-36953insTTTTTTT	NP_963887.2:n.214-36954_214-36953insTTTTTTT
NM_201596.3:c.214-36954_214-36953insTTTTTTT MANE Select	NP_963890.2:n.214-36954_214-36953insTTTTTTT
NM_201597.3:c.214-36954_214-36953insTTTTTTT	NP_963891.1:n.214-36954_214-36953insTTTTTTT