Canonical Allele Identifier: CA2499214811

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1073732
• ClinVar RCV Id: RCV001386807
• dbSNP Id: rs2100274299

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211068_53211077del , CM000663.2:g.53211068_53211077del	GRCh38
NC_000001.10:g.53676740_53676749del , CM000663.1:g.53676740_53676749del	GRCh37
NC_000001.9:g.53449328_53449337del	NCBI36
NG_008035.1:g.19640_19649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1394_1403del MANE Select	ENSP00000360541.3:p.Ala465GlyfsTer?
ENST00000635862.1:c.1394_1403del	ENSP00000490867.1:p.Ala465GlyfsTer?
ENST00000635888.1:c.*1380_*1389del	ENSP00000490042.1:n.*1380_*1389del
ENST00000636239.1:c.*1041_*1050del	ENSP00000490066.1:n.*1041_*1050del
ENST00000636867.1:c.1394_1403del	ENSP00000489631.1:p.Ala465GlyfsTer?
ENST00000636891.1:c.1394_1403del	ENSP00000490399.1:p.Ala465GlyfsTer?
ENST00000636935.1:c.341-2196_341-2187del	ENSP00000489757.1:n.341-2196_341-2187del
ENST00000637252.1:c.1394_1403del	ENSP00000490492.1:p.Ala465GlyfsTer?
ENST00000637726.1:n.3594_3603del
ENST00000638135.1:c.*1041_*1050del	ENSP00000489756.1:n.*1041_*1050del
ENST00000371486.3:c.1394_1403del	ENSP00000360541.3:p.Ala465GlyfsTer?
NM_000098.2:c.1394_1403del	NP_000089.1:p.Ala465GlyfsTer?
XM_005270484.1:c.1394_1403del	XP_005270541.1:p.Ala465GlyfsTer?
NM_001330589.1:c.1394_1403del	NP_001317518.1:p.Ala465GlyfsTer?
NM_000098.3:c.1394_1403del MANE Select	NP_000089.1:p.Ala465GlyfsTer?
NM_001330589.2:c.1394_1403del	NP_001317518.1:p.Ala465GlyfsTer?