Canonical Allele Identifier: CA340394293
Gene: CPT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210672A>G , CM000663.2:g.53210672A>G GRCh38
NC_000001.10:g.53676344A>G , CM000663.1:g.53676344A>G GRCh37
NC_000001.9:g.53448932A>G NCBI36
NG_008035.1:g.19244A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.998A>G MANE Select ENSP00000360541.3:p.Lys333Arg
ENST00000635862.1:c.998A>G ENSP00000490867.1:p.Lys333Arg
ENST00000635888.1:c.*984A>G ENSP00000490042.1:n.*984A>G
ENST00000636239.1:c.*645A>G ENSP00000490066.1:n.*645A>G
ENST00000636867.1:c.998A>G ENSP00000489631.1:p.Lys333Arg
ENST00000636891.1:c.998A>G ENSP00000490399.1:p.Lys333Arg
ENST00000636935.1:c.341-2592A>G ENSP00000489757.1:n.341-2592A>G
ENST00000637252.1:c.998A>G ENSP00000490492.1:p.Lys333Arg
ENST00000637726.1:n.3198A>G
ENST00000638135.1:c.*645A>G ENSP00000489756.1:n.*645A>G
ENST00000371486.3:c.998A>G ENSP00000360541.3:p.Lys333Arg
NM_000098.2:c.998A>G NP_000089.1:p.Lys333Arg
XM_005270484.1:c.998A>G XP_005270541.1:p.Lys333Arg
NM_001330589.1:c.998A>G NP_001317518.1:p.Lys333Arg
NM_000098.3:c.998A>G MANE Select NP_000089.1:p.Lys333Arg
NM_001330589.2:c.998A>G NP_001317518.1:p.Lys333Arg