Canonical Allele Identifier: CA859115
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1431499
ClinVar RCV Id: RCV001940782
dbSNP Id: rs761438840
gnomAD v2: 1-53676399-G-T
gnomAD v4: 1-53210727-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210727G>T , CM000663.2:g.53210727G>T GRCh38
NC_000001.10:g.53676399G>T , CM000663.1:g.53676399G>T GRCh37
NC_000001.9:g.53448987G>T NCBI36
NG_008035.1:g.19299G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1053G>T MANE Select ENSP00000360541.3:p.Trp351Cys
ENST00000635862.1:c.1053G>T ENSP00000490867.1:p.Trp351Cys
ENST00000635888.1:c.*1039G>T ENSP00000490042.1:n.*1039G>T
ENST00000636239.1:c.*700G>T ENSP00000490066.1:n.*700G>T
ENST00000636867.1:c.1053G>T ENSP00000489631.1:p.Trp351Cys
ENST00000636891.1:c.1053G>T ENSP00000490399.1:p.Trp351Cys
ENST00000636935.1:c.341-2537G>T ENSP00000489757.1:n.341-2537G>T
ENST00000637252.1:c.1053G>T ENSP00000490492.1:p.Trp351Cys
ENST00000637726.1:n.3253G>T
ENST00000638135.1:c.*700G>T ENSP00000489756.1:n.*700G>T
ENST00000371486.3:c.1053G>T ENSP00000360541.3:p.Trp351Cys
NM_000098.2:c.1053G>T NP_000089.1:p.Trp351Cys
XM_005270484.1:c.1053G>T XP_005270541.1:p.Trp351Cys
NM_001330589.1:c.1053G>T NP_001317518.1:p.Trp351Cys
NM_000098.3:c.1053G>T MANE Select NP_000089.1:p.Trp351Cys
NM_001330589.2:c.1053G>T NP_001317518.1:p.Trp351Cys