Canonical Allele Identifier: CA2580063050

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2004652
• ClinVar RCV Id: RCV002816246

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210587_53210846del , CM000663.2:g.53210587_53210846del	GRCh38
NC_000001.10:g.53676259_53676518del , CM000663.1:g.53676259_53676518del	GRCh37
NC_000001.9:g.53448847_53449106del	NCBI36
NG_008035.1:g.19159_19418del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.913_1172del MANE Select	ENSP00000360541.3:p.Lys305HisfsTer16
ENST00000635862.1:c.913_1172del	ENSP00000490867.1:p.Lys305HisfsTer16
ENST00000635888.1:c.*899_*1158del	ENSP00000490042.1:n.*899_*1158del
ENST00000636239.1:c.*560_*819del	ENSP00000490066.1:n.*560_*819del
ENST00000636867.1:c.913_1172del	ENSP00000489631.1:p.Lys305HisfsTer16
ENST00000636891.1:c.913_1172del	ENSP00000490399.1:p.Lys305HisfsTer16
ENST00000636935.1:c.341-2677_341-2418del	ENSP00000489757.1:n.341-2677_341-2418del
ENST00000637252.1:c.913_1172del	ENSP00000490492.1:p.Lys305HisfsTer16
ENST00000637726.1:n.3113_3372del
ENST00000638135.1:c.*560_*819del	ENSP00000489756.1:n.*560_*819del
ENST00000371486.3:c.913_1172del	ENSP00000360541.3:p.Lys305HisfsTer16
NM_000098.2:c.913_1172del	NP_000089.1:p.Lys305HisfsTer16
XM_005270484.1:c.913_1172del	XP_005270541.1:p.Lys305HisfsTer16
NM_001330589.1:c.913_1172del	NP_001317518.1:p.Lys305HisfsTer16
NM_000098.3:c.913_1172del MANE Select	NP_000089.1:p.Lys305HisfsTer16
NM_001330589.2:c.913_1172del	NP_001317518.1:p.Lys305HisfsTer16