Canonical Allele Identifier: CA662494804

Gene: CACNB2

Linked Data

• dbSNP Id: rs1322795676
• gnomAD v3: 10-18258013-GGATTATAGGCGT-G
• gnomAD v4: 10-18258013-GGATTATAGGCGT-G
• MyVariant Identifiers: chr10:g.18546943_18546954del (hg19) ; chr10:g.18258014_18258025del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18258016_18258027del , CM000672.2:g.18258016_18258027del	GRCh38
NC_000010.10:g.18546945_18546956del , CM000672.1:g.18546945_18546956del	GRCh37
NC_000010.9:g.18586951_18586962del	NCBI36
NG_016195.1:g.122340_122351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645287.2:c.129+107041_129+107052del	ENSP00000496203.1:n.129+107041_129+107052del
ENST00000282343.13:c.129+107041_129+107052del	ENSP00000282343.8:n.129+107041_129+107052del
ENST00000324631.13:c.213+107041_213+107052del MANE Select	ENSP00000320025.8:n.213+107041_213+107052del
ENST00000643096.2:c.129+107041_129+107052del	ENSP00000494209.2:n.129+107041_129+107052del
ENST00000644004.1:c.129+107041_129+107052del	ENSP00000495509.1:n.129+107041_129+107052del
ENST00000645287.1:c.129+107041_129+107052del	ENSP00000496203.1:n.129+107041_129+107052del
ENST00000282343.12:c.129+107041_129+107052del	ENSP00000282343.8:n.129+107041_129+107052del
ENST00000324631.11:c.213+107041_213+107052del	ENSP00000320025.7:n.213+107041_213+107052del
ENST00000352115.10:c.213+107041_213+107052del	ENSP00000344474.6:n.213+107041_213+107052del
ENST00000377328.5:c.213+107041_213+107052del	ENSP00000366545.1:n.213+107041_213+107052del
ENST00000377331.6:c.129+107041_129+107052del	ENSP00000366548.2:n.129+107041_129+107052del
NM_001167945.1:c.129+107041_129+107052del	NP_001161417.1:n.129+107041_129+107052del
NM_201571.3:c.129+107041_129+107052del	NP_963865.2:n.129+107041_129+107052del
NM_201572.3:c.129+107041_129+107052del	NP_963866.2:n.129+107041_129+107052del
NM_201593.2:c.213+107041_213+107052del	NP_963887.2:n.213+107041_213+107052del
NM_201596.2:c.213+107041_213+107052del	NP_963890.2:n.213+107041_213+107052del
NM_201597.2:c.213+107041_213+107052del	NP_963891.1:n.213+107041_213+107052del
XR_001747198.1:n.390+107041_390+107052del
XR_001747681.1:n.340-705_340-694del
NM_001167945.2:c.129+107041_129+107052del	NP_001161417.1:n.129+107041_129+107052del
NM_201571.4:c.129+107041_129+107052del	NP_963865.2:n.129+107041_129+107052del
NM_201572.4:c.129+107041_129+107052del	NP_963866.2:n.129+107041_129+107052del
NM_201593.3:c.213+107041_213+107052del	NP_963887.2:n.213+107041_213+107052del
NM_201596.3:c.213+107041_213+107052del MANE Select	NP_963890.2:n.213+107041_213+107052del
NM_201597.3:c.213+107041_213+107052del	NP_963891.1:n.213+107041_213+107052del