Canonical Allele Identifier: CA16040767
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371754
ClinVar RCV Id: RCV000409126 RCV000410673 RCV000411622
dbSNP Id: rs1057517507
MyVariant Identifiers: chr1:g.53676705_53676708del (hg19) chr1:g.53676703_53676706del (hg19) chr1:g.53211033_53211036del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53211033_53211036del , CM000663.2:g.53211033_53211036del GRCh38
NC_000001.10:g.53676705_53676708del , CM000663.1:g.53676705_53676708del GRCh37
NC_000001.9:g.53449293_53449296del NCBI36
NG_008035.1:g.19605_19608del

Transcript Alleles

HGVS Amino-acid change
ENST00000371486.4:c.1359_1362del MANE Select ENSP00000360541.3:p.Lys453AsnfsTer3
ENST00000635862.1:c.1359_1362del ENSP00000490867.1:p.Lys453AsnfsTer3
ENST00000635888.1:c.*1345_*1348del ENSP00000490042.1:n.*1345_*1348del
ENST00000636239.1:c.*1006_*1009del ENSP00000490066.1:n.*1006_*1009del
ENST00000636867.1:c.1359_1362del ENSP00000489631.1:p.Lys453AsnfsTer3
ENST00000636891.1:c.1359_1362del ENSP00000490399.1:p.Lys453AsnfsTer3
ENST00000636935.1:c.341-2231_341-2228del ENSP00000489757.1:n.341-2231_341-2228del
ENST00000637252.1:c.1359_1362del ENSP00000490492.1:p.Lys453AsnfsTer3
ENST00000637726.1:n.3559_3562del
ENST00000638135.1:c.*1006_*1009del ENSP00000489756.1:n.*1006_*1009del
ENST00000371486.3:c.1359_1362del ENSP00000360541.3:p.Lys453AsnfsTer3
NM_000098.2:c.1359_1362del NP_000089.1:p.Lys453AsnfsTer3
XM_005270484.1:c.1359_1362del XP_005270541.1:p.Lys453AsnfsTer3
NM_001330589.1:c.1359_1362del NP_001317518.1:p.Lys453AsnfsTer3
NM_000098.3:c.1359_1362del MANE Select NP_000089.1:p.Lys453AsnfsTer3
NM_001330589.2:c.1359_1362del NP_001317518.1:p.Lys453AsnfsTer3
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