Canonical Allele Identifier: CA1140886538
Community Standard Title: NM_000098.3(CPT2):c.1342T= (p.Phe448=)
Gene: CPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53211016T= , CM000663.2:g.53211016T= GRCh38
NC_000001.10:g.53676688T= , CM000663.1:g.53676688T= GRCh37
NC_000001.9:g.53449276T= NCBI36
NG_008035.1:g.19588T=

Transcript Alleles

HGVS Amino-acid Change
NM_000098.3:c.1342T= MANE Select NP_000089.1:p.Phe448=
ENST00000371486.4:c.1342T= MANE Select ENSP00000360541.3:p.Phe448=
NM_000098.2:c.1342T= NP_000089.1:p.Phe448=
NM_001330589.1:c.1342T= NP_001317518.1:p.Phe448=
NM_001330589.2:c.1342T= NP_001317518.1:p.Phe448=
ENST00000371486.3:c.1342T= ENSP00000360541.3:p.Phe448=
ENST00000635862.1:c.1342T= ENSP00000490867.1:p.Phe448=
ENST00000635888.1:c.*1328T= ENSP00000490042.1:n.*1328T=
ENST00000636239.1:c.*989T= ENSP00000490066.1:n.*989T=
ENST00000636867.1:c.1342T= ENSP00000489631.1:p.Phe448=
ENST00000636891.1:c.1342T= ENSP00000490399.1:p.Phe448=
ENST00000636935.1:c.341-2248T= ENSP00000489757.1:n.341-2248T=
ENST00000637252.1:c.1342T= ENSP00000490492.1:p.Phe448=
ENST00000637726.1:n.3542T=
ENST00000638135.1:c.*989T= ENSP00000489756.1:n.*989T=
XM_005270484.1:c.1342T= XP_005270541.1:p.Phe448=