Canonical Allele Identifier: CA591901775

Gene: CACNB2

Linked Data

• dbSNP Id: rs1251107344
• gnomAD v2: 10-18549082-CAT-C
• gnomAD v3: 10-18260153-CAT-C
• gnomAD v4: 10-18260153-CAT-C
• MyVariant Identifiers: chr10:g.18549083_18549084del (hg19) ; chr10:g.18260154_18260155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18260154_18260155del , CM000672.2:g.18260154_18260155del	GRCh38
NC_000010.10:g.18549083_18549084del , CM000672.1:g.18549083_18549084del	GRCh37
NC_000010.9:g.18589089_18589090del	NCBI36
NG_016195.1:g.124478_124479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645287.2:c.129+109179_129+109180del	ENSP00000496203.1:n.129+109179_129+109180del
ENST00000282343.13:c.129+109179_129+109180del	ENSP00000282343.8:n.129+109179_129+109180del
ENST00000324631.13:c.213+109179_213+109180del MANE Select	ENSP00000320025.8:n.213+109179_213+109180del
ENST00000643096.2:c.129+109179_129+109180del	ENSP00000494209.2:n.129+109179_129+109180del
ENST00000644004.1:c.129+109179_129+109180del	ENSP00000495509.1:n.129+109179_129+109180del
ENST00000645287.1:c.129+109179_129+109180del	ENSP00000496203.1:n.129+109179_129+109180del
ENST00000282343.12:c.129+109179_129+109180del	ENSP00000282343.8:n.129+109179_129+109180del
ENST00000324631.11:c.213+109179_213+109180del	ENSP00000320025.7:n.213+109179_213+109180del
ENST00000352115.10:c.213+109179_213+109180del	ENSP00000344474.6:n.213+109179_213+109180del
ENST00000377328.5:c.213+109179_213+109180del	ENSP00000366545.1:n.213+109179_213+109180del
ENST00000377331.6:c.129+109179_129+109180del	ENSP00000366548.2:n.129+109179_129+109180del
NM_001167945.1:c.129+109179_129+109180del	NP_001161417.1:n.129+109179_129+109180del
NM_201571.3:c.129+109179_129+109180del	NP_963865.2:n.129+109179_129+109180del
NM_201572.3:c.129+109179_129+109180del	NP_963866.2:n.129+109179_129+109180del
NM_201593.2:c.213+109179_213+109180del	NP_963887.2:n.213+109179_213+109180del
NM_201596.2:c.213+109179_213+109180del	NP_963890.2:n.213+109179_213+109180del
NM_201597.2:c.213+109179_213+109180del	NP_963891.1:n.213+109179_213+109180del
XR_001747198.1:n.390+109179_390+109180del
XR_001747681.1:n.339+1011_339+1012del
NM_001167945.2:c.129+109179_129+109180del	NP_001161417.1:n.129+109179_129+109180del
NM_201571.4:c.129+109179_129+109180del	NP_963865.2:n.129+109179_129+109180del
NM_201572.4:c.129+109179_129+109180del	NP_963866.2:n.129+109179_129+109180del
NM_201593.3:c.213+109179_213+109180del	NP_963887.2:n.213+109179_213+109180del
NM_201596.3:c.213+109179_213+109180del MANE Select	NP_963890.2:n.213+109179_213+109180del
NM_201597.3:c.213+109179_213+109180del	NP_963891.1:n.213+109179_213+109180del