Canonical Allele Identifier: CA254610

Gene: CPT2

Linked Data

• ClinVar Variation Id: 8958
• ClinVar RCV Id: RCV000009518 ; RCV000009517 ; RCV000202462 ; RCV000411002 ; RCV000762943 ; RCV001004159 ; RCV001270097 ; RCV003473065
• dbSNP Id: rs74315295
• ExAC: 1:53676494 T / A
• gnomAD v2: 1-53676494-T-A
• gnomAD v3: 1-53210822-T-A
• gnomAD v4: 1-53210822-T-A
• MyVariant Identifiers: chr1:g.53676494T>A (hg19) ; chr1:g.53210822T>A (hg38)
• PubMed: PMID:8682496 ; PMID:9600456 ; PMID:12673791 ; PMID:17709715 ; PMID:18363739 ; PMID:20301431 ; PMID:21227726 ; PMID:22854105 ; PMID:23700290 ; PMID:25919294

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210822T>A , CM000663.2:g.53210822T>A	GRCh38
NC_000001.10:g.53676494T>A , CM000663.1:g.53676494T>A	GRCh37
NC_000001.9:g.53449082T>A	NCBI36
NG_008035.1:g.19394T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1148T>A MANE Select	ENSP00000360541.3:p.Phe383Tyr
ENST00000635862.1:c.1148T>A	ENSP00000490867.1:p.Phe383Tyr
ENST00000635888.1:c.*1134T>A	ENSP00000490042.1:n.*1134T>A
ENST00000636239.1:c.*795T>A	ENSP00000490066.1:n.*795T>A
ENST00000636867.1:c.1148T>A	ENSP00000489631.1:p.Phe383Tyr
ENST00000636891.1:c.1148T>A	ENSP00000490399.1:p.Phe383Tyr
ENST00000636935.1:c.341-2442T>A	ENSP00000489757.1:n.341-2442T>A
ENST00000637252.1:c.1148T>A	ENSP00000490492.1:p.Phe383Tyr
ENST00000637726.1:n.3348T>A
ENST00000638135.1:c.*795T>A	ENSP00000489756.1:n.*795T>A
ENST00000371486.3:c.1148T>A	ENSP00000360541.3:p.Phe383Tyr
NM_000098.2:c.1148T>A	NP_000089.1:p.Phe383Tyr
XM_005270484.1:c.1148T>A	XP_005270541.1:p.Phe383Tyr
NM_001330589.1:c.1148T>A	NP_001317518.1:p.Phe383Tyr
NM_000098.3:c.1148T>A MANE Select	NP_000089.1:p.Phe383Tyr
NM_001330589.2:c.1148T>A	NP_001317518.1:p.Phe383Tyr