Canonical Allele Identifier: CA2695198034

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2680943
• ClinVar RCV Id: RCV003475736

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210872_53210873del , CM000663.2:g.53210872_53210873del	GRCh38
NC_000001.10:g.53676544_53676545del , CM000663.1:g.53676544_53676545del	GRCh37
NC_000001.9:g.53449132_53449133del	NCBI36
NG_008035.1:g.19444_19445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1198_1199del MANE Select	ENSP00000360541.3:p.Gln400GlufsTer7
ENST00000635862.1:c.1198_1199del	ENSP00000490867.1:p.Gln400GlufsTer7
ENST00000635888.1:c.*1184_*1185del	ENSP00000490042.1:n.*1184_*1185del
ENST00000636239.1:c.*845_*846del	ENSP00000490066.1:n.*845_*846del
ENST00000636867.1:c.1198_1199del	ENSP00000489631.1:p.Gln400GlufsTer7
ENST00000636891.1:c.1198_1199del	ENSP00000490399.1:p.Gln400GlufsTer7
ENST00000636935.1:c.341-2392_341-2391del	ENSP00000489757.1:n.341-2392_341-2391del
ENST00000637252.1:c.1198_1199del	ENSP00000490492.1:p.Gln400GlufsTer7
ENST00000637726.1:n.3398_3399del
ENST00000638135.1:c.*845_*846del	ENSP00000489756.1:n.*845_*846del
ENST00000371486.3:c.1198_1199del	ENSP00000360541.3:p.Gln400GlufsTer7
NM_000098.2:c.1198_1199del	NP_000089.1:p.Gln400GlufsTer7
XM_005270484.1:c.1198_1199del	XP_005270541.1:p.Gln400GlufsTer7
NM_001330589.1:c.1198_1199del	NP_001317518.1:p.Gln400GlufsTer7
NM_000098.3:c.1198_1199del MANE Select	NP_000089.1:p.Gln400GlufsTer7
NM_001330589.2:c.1198_1199del	NP_001317518.1:p.Gln400GlufsTer7