Canonical Allele Identifier: CA145733

Gene: CPT2

Linked Data

• ClinVar Variation Id: 92428
• ClinVar RCV Id: RCV000078115 ; RCV000202443 ; RCV000444353 ; RCV000578014 ; RCV003453001 ; RCV003456002 ; RCV003982874 ; RCV003452999 ; RCV003453000
• dbSNP Id: rs2229291
• ExAC: 1:53676401 T / G
• gnomAD v2: 1-53676401-T-G
• gnomAD v3: 1-53210729-T-G
• gnomAD v4: 1-53210729-T-G
• MyVariant Identifiers: chr1:g.53676401T>G (hg19) ; chr1:g.53210729T>G (hg38)
• PubMed: PMID:9600456 ; PMID:15811315 ; PMID:16996287 ; PMID:18306170 ; PMID:18363739 ; PMID:20301431 ; PMID:20934285 ; PMID:21697855 ; PMID:23757202

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210729T>G , CM000663.2:g.53210729T>G	GRCh38
NC_000001.10:g.53676401T>G , CM000663.1:g.53676401T>G	GRCh37
NC_000001.9:g.53448989T>G	NCBI36
NG_008035.1:g.19301T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1055T>G MANE Select	ENSP00000360541.3:p.Phe352Cys
ENST00000635862.1:c.1055T>G	ENSP00000490867.1:p.Phe352Cys
ENST00000635888.1:c.*1041T>G	ENSP00000490042.1:n.*1041T>G
ENST00000636239.1:c.*702T>G	ENSP00000490066.1:n.*702T>G
ENST00000636867.1:c.1055T>G	ENSP00000489631.1:p.Phe352Cys
ENST00000636891.1:c.1055T>G	ENSP00000490399.1:p.Phe352Cys
ENST00000636935.1:c.341-2535T>G	ENSP00000489757.1:n.341-2535T>G
ENST00000637252.1:c.1055T>G	ENSP00000490492.1:p.Phe352Cys
ENST00000637726.1:n.3255T>G
ENST00000638135.1:c.*702T>G	ENSP00000489756.1:n.*702T>G
ENST00000371486.3:c.1055T>G	ENSP00000360541.3:p.Phe352Cys
NM_000098.2:c.1055T>G	NP_000089.1:p.Phe352Cys
XM_005270484.1:c.1055T>G	XP_005270541.1:p.Phe352Cys
NM_001330589.1:c.1055T>G	NP_001317518.1:p.Phe352Cys
NM_000098.3:c.1055T>G MANE Select	NP_000089.1:p.Phe352Cys
NM_001330589.2:c.1055T>G	NP_001317518.1:p.Phe352Cys