Canonical Allele Identifier: CA2697552432

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2731066
• ClinVar RCV Id: RCV003581332

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211202_53211203del , CM000663.2:g.53211202_53211203del	GRCh38
NC_000001.10:g.53676874_53676875del , CM000663.1:g.53676874_53676875del	GRCh37
NC_000001.9:g.53449462_53449463del	NCBI36
NG_008035.1:g.19774_19775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1528_1529del MANE Select	ENSP00000360541.3:p.Lys510GlufsTer4
ENST00000635862.1:c.1528_1529del	ENSP00000490867.1:p.Lys510GlufsTer4
ENST00000635888.1:c.*1514_*1515del	ENSP00000490042.1:n.*1514_*1515del
ENST00000636239.1:c.*1175_*1176del	ENSP00000490066.1:n.*1175_*1176del
ENST00000636867.1:c.1528_1529del	ENSP00000489631.1:p.Lys510GlufsTer4
ENST00000636891.1:c.1528_1529del	ENSP00000490399.1:p.Lys510GlufsTer4
ENST00000636935.1:c.341-2062_341-2061del	ENSP00000489757.1:n.341-2062_341-2061del
ENST00000637252.1:c.1528_1529del	ENSP00000490492.1:p.Lys510GlufsTer4
ENST00000637726.1:n.3728_3729del
ENST00000638135.1:c.*1175_*1176del	ENSP00000489756.1:n.*1175_*1176del
ENST00000371486.3:c.1528_1529del	ENSP00000360541.3:p.Lys510GlufsTer4
NM_000098.2:c.1528_1529del	NP_000089.1:p.Lys510GlufsTer4
XM_005270484.1:c.1528_1529del	XP_005270541.1:p.Lys510GlufsTer4
NM_001330589.1:c.1528_1529del	NP_001317518.1:p.Lys510GlufsTer4
NM_000098.3:c.1528_1529del MANE Select	NP_000089.1:p.Lys510GlufsTer4
NM_001330589.2:c.1528_1529del	NP_001317518.1:p.Lys510GlufsTer4