Canonical Allele Identifier: CA2695878884
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs2100273613

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210810del , CM000663.2:g.53210810del GRCh38
NC_000001.10:g.53676482del , CM000663.1:g.53676482del GRCh37
NC_000001.9:g.53449070del NCBI36
NG_008035.1:g.19382del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1136del MANE Select ENSP00000360541.3:p.Ala379GlufsTer?
ENST00000635862.1:c.1136del ENSP00000490867.1:p.Ala379GlufsTer?
ENST00000635888.1:c.*1122del ENSP00000490042.1:n.*1122del
ENST00000636239.1:c.*783del ENSP00000490066.1:n.*783del
ENST00000636867.1:c.1136del ENSP00000489631.1:p.Ala379GlufsTer?
ENST00000636891.1:c.1136del ENSP00000490399.1:p.Ala379GlufsTer?
ENST00000636935.1:c.341-2454del ENSP00000489757.1:n.341-2454del
ENST00000637252.1:c.1136del ENSP00000490492.1:p.Ala379GlufsTer?
ENST00000637726.1:n.3336del
ENST00000638135.1:c.*783del ENSP00000489756.1:n.*783del
ENST00000371486.3:c.1136del ENSP00000360541.3:p.Ala379GlufsTer?
NM_000098.2:c.1136del NP_000089.1:p.Ala379GlufsTer?
XM_005270484.1:c.1136del XP_005270541.1:p.Ala379GlufsTer?
NM_001330589.1:c.1136del NP_001317518.1:p.Ala379GlufsTer?
NM_000098.3:c.1136del MANE Select NP_000089.1:p.Ala379GlufsTer?
NM_001330589.2:c.1136del NP_001317518.1:p.Ala379GlufsTer?