Canonical Allele Identifier: CA042876

Gene: CPT2

Linked Data

• PubMed: PMID:15811315 ; PMID:18306170 ; PMID:20934285 ; PMID:21697855

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.[53210729T>G;53210776G>A] , CM000663.2:g.[53210729T>G;53210776G>A]	GRCh38
NC_000001.10:g.[53676401T>G;53676448G>A] , CM000663.1:g.[53676401T>G;53676448G>A]	GRCh37
NC_000001.9:g.[53448989T>G;53449036G>A]	NCBI36
NG_008035.1:g.[19301T>G;19348G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.[1055T>G;1102G>A] MANE Select	ENSP00000360541.3:p.[Phe352Cys;Val368Ile]
ENST00000635862.1:c.[1055T>G;1102G>A]	ENSP00000490867.1:p.[Phe352Cys;Val368Ile]
ENST00000635888.1:c.[*1041T>G;*1088G>A]	ENSP00000490042.1:n.[*1041T>G;*1088G>A]
ENST00000636239.1:c.[*702T>G;*749G>A]	ENSP00000490066.1:n.[*702T>G;*749G>A]
ENST00000636867.1:c.[1055T>G;1102G>A]	ENSP00000489631.1:p.[Phe352Cys;Val368Ile]
ENST00000636891.1:c.[1055T>G;1102G>A]	ENSP00000490399.1:p.[Phe352Cys;Val368Ile]
ENST00000636935.1:c.[341-2535T>G;341-2488G>A]	ENSP00000489757.1:n.[341-2535T>G;341-2488G>A]
ENST00000637252.1:c.[1055T>G;1102G>A]	ENSP00000490492.1:p.[Phe352Cys;Val368Ile]
ENST00000637726.1:n.[3255T>G;3302G>A]
ENST00000638135.1:c.[*702T>G;*749G>A]	ENSP00000489756.1:n.[*702T>G;*749G>A]
ENST00000371486.3:c.[1055T>G;1102G>A]	ENSP00000360541.3:p.[Phe352Cys;Val368Ile]
NM_000098.2:c.[1055T>G;1102G>A]	NP_000089.1:p.[Phe352Cys;Val368Ile]
XM_005270484.1:c.[1055T>G;1102G>A]	XP_005270541.1:p.[Phe352Cys;Val368Ile]
NM_001330589.1:c.[1055T>G;1102G>A]	NP_001317518.1:p.[Phe352Cys;Val368Ile]
NM_000098.3:c.[1055T>G;1102G>A] MANE Select	NP_000089.1:p.[Phe352Cys;Val368Ile]
NM_001330589.2:c.[1055T>G;1102G>A]	NP_001317518.1:p.[Phe352Cys;Val368Ile]