Canonical Allele Identifier: CA2695198033

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2680946
• ClinVar RCV Id: RCV003475739

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210742dup , CM000663.2:g.53210742dup	GRCh38
NC_000001.10:g.53676414dup , CM000663.1:g.53676414dup	GRCh37
NC_000001.9:g.53449002dup	NCBI36
NG_008035.1:g.19314dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1068dup MANE Select	ENSP00000360541.3:p.Asn357Ter
ENST00000635862.1:c.1068dup	ENSP00000490867.1:p.Asn357Ter
ENST00000635888.1:c.*1054dup	ENSP00000490042.1:n.*1054dup
ENST00000636239.1:c.*715dup	ENSP00000490066.1:n.*715dup
ENST00000636867.1:c.1068dup	ENSP00000489631.1:p.Asn357Ter
ENST00000636891.1:c.1068dup	ENSP00000490399.1:p.Asn357Ter
ENST00000636935.1:c.341-2522dup	ENSP00000489757.1:n.341-2522dup
ENST00000637252.1:c.1068dup	ENSP00000490492.1:p.Asn357Ter
ENST00000637726.1:n.3268dup
ENST00000638135.1:c.*715dup	ENSP00000489756.1:n.*715dup
ENST00000371486.3:c.1068dup	ENSP00000360541.3:p.Asn357Ter
NM_000098.2:c.1068dup	NP_000089.1:p.Asn357Ter
XM_005270484.1:c.1068dup	XP_005270541.1:p.Asn357Ter
NM_001330589.1:c.1068dup	NP_001317518.1:p.Asn357Ter
NM_000098.3:c.1068dup MANE Select	NP_000089.1:p.Asn357Ter
NM_001330589.2:c.1068dup	NP_001317518.1:p.Asn357Ter