Canonical Allele Identifier: CA662494719

Gene: CACNB2

Linked Data

• dbSNP Id: rs1244127790
• gnomAD v3: 10-18257888-CAT-C
• gnomAD v4: 10-18257888-CAT-C
• MyVariant Identifiers: chr10:g.18546818_18546819del (hg19) ; chr10:g.18257889_18257890del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18257889_18257890del , CM000672.2:g.18257889_18257890del	GRCh38
NC_000010.10:g.18546818_18546819del , CM000672.1:g.18546818_18546819del	GRCh37
NC_000010.9:g.18586824_18586825del	NCBI36
NG_016195.1:g.122213_122214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645287.2:c.129+106914_129+106915del	ENSP00000496203.1:n.129+106914_129+106915del
ENST00000282343.13:c.129+106914_129+106915del	ENSP00000282343.8:n.129+106914_129+106915del
ENST00000324631.13:c.213+106914_213+106915del MANE Select	ENSP00000320025.8:n.213+106914_213+106915del
ENST00000643096.2:c.129+106914_129+106915del	ENSP00000494209.2:n.129+106914_129+106915del
ENST00000644004.1:c.129+106914_129+106915del	ENSP00000495509.1:n.129+106914_129+106915del
ENST00000645287.1:c.129+106914_129+106915del	ENSP00000496203.1:n.129+106914_129+106915del
ENST00000282343.12:c.129+106914_129+106915del	ENSP00000282343.8:n.129+106914_129+106915del
ENST00000324631.11:c.213+106914_213+106915del	ENSP00000320025.7:n.213+106914_213+106915del
ENST00000352115.10:c.213+106914_213+106915del	ENSP00000344474.6:n.213+106914_213+106915del
ENST00000377328.5:c.213+106914_213+106915del	ENSP00000366545.1:n.213+106914_213+106915del
ENST00000377331.6:c.129+106914_129+106915del	ENSP00000366548.2:n.129+106914_129+106915del
NM_001167945.1:c.129+106914_129+106915del	NP_001161417.1:n.129+106914_129+106915del
NM_201571.3:c.129+106914_129+106915del	NP_963865.2:n.129+106914_129+106915del
NM_201572.3:c.129+106914_129+106915del	NP_963866.2:n.129+106914_129+106915del
NM_201593.2:c.213+106914_213+106915del	NP_963887.2:n.213+106914_213+106915del
NM_201596.2:c.213+106914_213+106915del	NP_963890.2:n.213+106914_213+106915del
NM_201597.2:c.213+106914_213+106915del	NP_963891.1:n.213+106914_213+106915del
XR_001747198.1:n.390+106914_390+106915del
XR_001747681.1:n.340-570_340-569del
NM_001167945.2:c.129+106914_129+106915del	NP_001161417.1:n.129+106914_129+106915del
NM_201571.4:c.129+106914_129+106915del	NP_963865.2:n.129+106914_129+106915del
NM_201572.4:c.129+106914_129+106915del	NP_963866.2:n.129+106914_129+106915del
NM_201593.3:c.213+106914_213+106915del	NP_963887.2:n.213+106914_213+106915del
NM_201596.3:c.213+106914_213+106915del MANE Select	NP_963890.2:n.213+106914_213+106915del
NM_201597.3:c.213+106914_213+106915del	NP_963891.1:n.213+106914_213+106915del