Canonical Allele Identifier: CA2697552430

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2700153
• ClinVar RCV Id: RCV003582232

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210649_53210650del , CM000663.2:g.53210649_53210650del	GRCh38
NC_000001.10:g.53676321_53676322del , CM000663.1:g.53676321_53676322del	GRCh37
NC_000001.9:g.53448909_53448910del	NCBI36
NG_008035.1:g.19221_19222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.975_976del MANE Select	ENSP00000360541.3:p.Cys326ProfsTer3
ENST00000635862.1:c.975_976del	ENSP00000490867.1:p.Cys326ProfsTer3
ENST00000635888.1:c.*961_*962del	ENSP00000490042.1:n.*961_*962del
ENST00000636239.1:c.*622_*623del	ENSP00000490066.1:n.*622_*623del
ENST00000636867.1:c.975_976del	ENSP00000489631.1:p.Cys326ProfsTer3
ENST00000636891.1:c.975_976del	ENSP00000490399.1:p.Cys326ProfsTer3
ENST00000636935.1:c.341-2615_341-2614del	ENSP00000489757.1:n.341-2615_341-2614del
ENST00000637252.1:c.975_976del	ENSP00000490492.1:p.Cys326ProfsTer3
ENST00000637726.1:n.3175_3176del
ENST00000638135.1:c.*622_*623del	ENSP00000489756.1:n.*622_*623del
ENST00000371486.3:c.975_976del	ENSP00000360541.3:p.Cys326ProfsTer3
NM_000098.2:c.975_976del	NP_000089.1:p.Cys326ProfsTer3
XM_005270484.1:c.975_976del	XP_005270541.1:p.Cys326ProfsTer3
NM_001330589.1:c.975_976del	NP_001317518.1:p.Cys326ProfsTer3
NM_000098.3:c.975_976del MANE Select	NP_000089.1:p.Cys326ProfsTer3
NM_001330589.2:c.975_976del	NP_001317518.1:p.Cys326ProfsTer3