Canonical Allele Identifier: CA2645706635

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2680938
• ClinVar RCV Id: RCV003475731
• gnomAD v4: 1-53197001-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53197006dup , CM000663.2:g.53197006dup	GRCh38
NC_000001.10:g.53662678dup , CM000663.1:g.53662678dup	GRCh37
NC_000001.9:g.53435266dup	NCBI36
NG_008035.1:g.5578dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.63dup MANE Select	ENSP00000360541.3:p.Ser22GlnfsTer?
ENST00000468572.2:n.148dup
ENST00000635862.1:c.63dup	ENSP00000490867.1:p.Ser22GlnfsTer?
ENST00000635888.1:c.63dup	ENSP00000490042.1:p.Ser22GlnfsTer?
ENST00000636239.1:c.63dup	ENSP00000490066.1:p.Ser22GlnfsTer?
ENST00000636867.1:c.63dup	ENSP00000489631.1:p.Ser22GlnfsTer?
ENST00000636891.1:c.63dup	ENSP00000490399.1:p.Ser22GlnfsTer?
ENST00000636935.1:c.63dup	ENSP00000489757.1:p.Ser22GlnfsTer?
ENST00000637252.1:c.63dup	ENSP00000490492.1:p.Ser22GlnfsTer?
ENST00000638135.1:c.63dup	ENSP00000489756.1:p.Ser22GlnfsTer?
ENST00000371486.3:c.63dup	ENSP00000360541.3:p.Ser22GlnfsTer?
ENST00000468572.1:n.148dup
NM_000098.2:c.63dup	NP_000089.1:p.Ser22GlnfsTer?
XM_005270484.1:c.63dup	XP_005270541.1:p.Ser22GlnfsTer?
NM_001330589.1:c.63dup	NP_001317518.1:p.Ser22GlnfsTer?
NM_000098.3:c.63dup MANE Select	NP_000089.1:p.Ser22GlnfsTer?
NM_001330589.2:c.63dup	NP_001317518.1:p.Ser22GlnfsTer?