Canonical Allele Identifier: CA2573131911

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1460313
• ClinVar RCV Id: RCV001963271
• dbSNP Id: rs2100273480

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210761dup , CM000663.2:g.53210761dup	GRCh38
NC_000001.10:g.53676433dup , CM000663.1:g.53676433dup	GRCh37
NC_000001.9:g.53449021dup	NCBI36
NG_008035.1:g.19333dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1087dup MANE Select	ENSP00000360541.3:p.Asp363GlyfsTer9
ENST00000635862.1:c.1087dup	ENSP00000490867.1:p.Asp363GlyfsTer9
ENST00000635888.1:c.*1073dup	ENSP00000490042.1:n.*1073dup
ENST00000636239.1:c.*734dup	ENSP00000490066.1:n.*734dup
ENST00000636867.1:c.1087dup	ENSP00000489631.1:p.Asp363GlyfsTer9
ENST00000636891.1:c.1087dup	ENSP00000490399.1:p.Asp363GlyfsTer9
ENST00000636935.1:c.341-2503dup	ENSP00000489757.1:n.341-2503dup
ENST00000637252.1:c.1087dup	ENSP00000490492.1:p.Asp363GlyfsTer9
ENST00000637726.1:n.3287dup
ENST00000638135.1:c.*734dup	ENSP00000489756.1:n.*734dup
ENST00000371486.3:c.1087dup	ENSP00000360541.3:p.Asp363GlyfsTer9
NM_000098.2:c.1087dup	NP_000089.1:p.Asp363GlyfsTer9
XM_005270484.1:c.1087dup	XP_005270541.1:p.Asp363GlyfsTer9
NM_001330589.1:c.1087dup	NP_001317518.1:p.Asp363GlyfsTer9
NM_000098.3:c.1087dup MANE Select	NP_000089.1:p.Asp363GlyfsTer9
NM_001330589.2:c.1087dup	NP_001317518.1:p.Asp363GlyfsTer9