Canonical Allele Identifier: CA859104
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs767119836

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210696del , CM000663.2:g.53210696del GRCh38
NC_000001.10:g.53676368del , CM000663.1:g.53676368del GRCh37
NC_000001.9:g.53448956del NCBI36
NG_008035.1:g.19268del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1022del MANE Select ENSP00000360541.3:p.Asn341IlefsTer?
ENST00000635862.1:c.1022del ENSP00000490867.1:p.Asn341IlefsTer?
ENST00000635888.1:c.*1008del ENSP00000490042.1:n.*1008del
ENST00000636239.1:c.*669del ENSP00000490066.1:n.*669del
ENST00000636867.1:c.1022del ENSP00000489631.1:p.Asn341IlefsTer?
ENST00000636891.1:c.1022del ENSP00000490399.1:p.Asn341IlefsTer?
ENST00000636935.1:c.341-2568del ENSP00000489757.1:n.341-2568del
ENST00000637252.1:c.1022del ENSP00000490492.1:p.Asn341IlefsTer?
ENST00000637726.1:n.3222del
ENST00000638135.1:c.*669del ENSP00000489756.1:n.*669del
ENST00000371486.3:c.1022del ENSP00000360541.3:p.Asn341IlefsTer?
NM_000098.2:c.1022del NP_000089.1:p.Asn341IlefsTer?
XM_005270484.1:c.1022del XP_005270541.1:p.Asn341IlefsTer?
NM_001330589.1:c.1022del NP_001317518.1:p.Asn341IlefsTer?
NM_000098.3:c.1022del MANE Select NP_000089.1:p.Asn341IlefsTer?
NM_001330589.2:c.1022del NP_001317518.1:p.Asn341IlefsTer?