Canonical Allele Identifier: CA2697552423

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2756871
• ClinVar RCV Id: RCV003582958

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210428del , CM000663.2:g.53210428del	GRCh38
NC_000001.10:g.53676100del , CM000663.1:g.53676100del	GRCh37
NC_000001.9:g.53448688del	NCBI36
NG_008035.1:g.19000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.754del MANE Select	ENSP00000360541.3:p.Tyr252IlefsTer13
ENST00000635862.1:c.754del	ENSP00000490867.1:p.Tyr252IlefsTer13
ENST00000635888.1:c.*740del	ENSP00000490042.1:n.*740del
ENST00000636239.1:c.*401del	ENSP00000490066.1:n.*401del
ENST00000636867.1:c.754del	ENSP00000489631.1:p.Tyr252IlefsTer13
ENST00000636891.1:c.754del	ENSP00000490399.1:p.Tyr252IlefsTer13
ENST00000636935.1:c.341-2836del	ENSP00000489757.1:n.341-2836del
ENST00000637252.1:c.754del	ENSP00000490492.1:p.Tyr252IlefsTer13
ENST00000637726.1:n.2954del
ENST00000638135.1:c.*401del	ENSP00000489756.1:n.*401del
ENST00000371486.3:c.754del	ENSP00000360541.3:p.Tyr252IlefsTer13
NM_000098.2:c.754del	NP_000089.1:p.Tyr252IlefsTer13
XM_005270484.1:c.754del	XP_005270541.1:p.Tyr252IlefsTer13
NM_001330589.1:c.754del	NP_001317518.1:p.Tyr252IlefsTer13
NM_000098.3:c.754del MANE Select	NP_000089.1:p.Tyr252IlefsTer13
NM_001330589.2:c.754del	NP_001317518.1:p.Tyr252IlefsTer13