Canonical Allele Identifier: CA925503946

Gene: CACNB2

Linked Data

• dbSNP Id: rs2037353381
• gnomAD v3: 10-18257932-CGAGGTTTCGT-C
• gnomAD v4: 10-18257932-CGAGGTTTCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18257933_18257942del , CM000672.2:g.18257933_18257942del	GRCh38
NC_000010.10:g.18546862_18546871del , CM000672.1:g.18546862_18546871del	GRCh37
NC_000010.9:g.18586868_18586877del	NCBI36
NG_016195.1:g.122257_122266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645287.2:c.129+106958_129+106967del	ENSP00000496203.1:n.129+106958_129+106967del
ENST00000282343.13:c.129+106958_129+106967del	ENSP00000282343.8:n.129+106958_129+106967del
ENST00000324631.13:c.213+106958_213+106967del MANE Select	ENSP00000320025.8:n.213+106958_213+106967del
ENST00000643096.2:c.129+106958_129+106967del	ENSP00000494209.2:n.129+106958_129+106967del
ENST00000644004.1:c.129+106958_129+106967del	ENSP00000495509.1:n.129+106958_129+106967del
ENST00000645287.1:c.129+106958_129+106967del	ENSP00000496203.1:n.129+106958_129+106967del
ENST00000282343.12:c.129+106958_129+106967del	ENSP00000282343.8:n.129+106958_129+106967del
ENST00000324631.11:c.213+106958_213+106967del	ENSP00000320025.7:n.213+106958_213+106967del
ENST00000352115.10:c.213+106958_213+106967del	ENSP00000344474.6:n.213+106958_213+106967del
ENST00000377328.5:c.213+106958_213+106967del	ENSP00000366545.1:n.213+106958_213+106967del
ENST00000377331.6:c.129+106958_129+106967del	ENSP00000366548.2:n.129+106958_129+106967del
NM_001167945.1:c.129+106958_129+106967del	NP_001161417.1:n.129+106958_129+106967del
NM_201571.3:c.129+106958_129+106967del	NP_963865.2:n.129+106958_129+106967del
NM_201572.3:c.129+106958_129+106967del	NP_963866.2:n.129+106958_129+106967del
NM_201593.2:c.213+106958_213+106967del	NP_963887.2:n.213+106958_213+106967del
NM_201596.2:c.213+106958_213+106967del	NP_963890.2:n.213+106958_213+106967del
NM_201597.2:c.213+106958_213+106967del	NP_963891.1:n.213+106958_213+106967del
XR_001747198.1:n.390+106958_390+106967del
XR_001747681.1:n.340-622_340-613del
NM_001167945.2:c.129+106958_129+106967del	NP_001161417.1:n.129+106958_129+106967del
NM_201571.4:c.129+106958_129+106967del	NP_963865.2:n.129+106958_129+106967del
NM_201572.4:c.129+106958_129+106967del	NP_963866.2:n.129+106958_129+106967del
NM_201593.3:c.213+106958_213+106967del	NP_963887.2:n.213+106958_213+106967del
NM_201596.3:c.213+106958_213+106967del MANE Select	NP_963890.2:n.213+106958_213+106967del
NM_201597.3:c.213+106958_213+106967del	NP_963891.1:n.213+106958_213+106967del