Canonical Allele Identifier: CA2499214810

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1163630
• ClinVar RCV Id: RCV001508867
• dbSNP Id: rs2100273567

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210793_53210794del , CM000663.2:g.53210793_53210794del	GRCh38
NC_000001.10:g.53676465_53676466del , CM000663.1:g.53676465_53676466del	GRCh37
NC_000001.9:g.53449053_53449054del	NCBI36
NG_008035.1:g.19365_19366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1119_1120del MANE Select	ENSP00000360541.3:p.Trp374GlyfsTer2
ENST00000635862.1:c.1119_1120del	ENSP00000490867.1:p.Trp374GlyfsTer2
ENST00000635888.1:c.*1105_*1106del	ENSP00000490042.1:n.*1105_*1106del
ENST00000636239.1:c.*766_*767del	ENSP00000490066.1:n.*766_*767del
ENST00000636867.1:c.1119_1120del	ENSP00000489631.1:p.Trp374GlyfsTer2
ENST00000636891.1:c.1119_1120del	ENSP00000490399.1:p.Trp374GlyfsTer2
ENST00000636935.1:c.341-2471_341-2470del	ENSP00000489757.1:n.341-2471_341-2470del
ENST00000637252.1:c.1119_1120del	ENSP00000490492.1:p.Trp374GlyfsTer2
ENST00000637726.1:n.3319_3320del
ENST00000638135.1:c.*766_*767del	ENSP00000489756.1:n.*766_*767del
ENST00000371486.3:c.1119_1120del	ENSP00000360541.3:p.Trp374GlyfsTer2
NM_000098.2:c.1119_1120del	NP_000089.1:p.Trp374GlyfsTer2
XM_005270484.1:c.1119_1120del	XP_005270541.1:p.Trp374GlyfsTer2
NM_001330589.1:c.1119_1120del	NP_001317518.1:p.Trp374GlyfsTer2
NM_000098.3:c.1119_1120del MANE Select	NP_000089.1:p.Trp374GlyfsTer2
NM_001330589.2:c.1119_1120del	NP_001317518.1:p.Trp374GlyfsTer2