Canonical Allele Identifier: CA859297
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 529860
dbSNP Id: rs540322467
gnomAD v2: 1-53679141-T-C
gnomAD v3: 1-53213469-T-C
gnomAD v4: 1-53213469-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53213469T>C , CM000663.2:g.53213469T>C GRCh38
NC_000001.10:g.53679141T>C , CM000663.1:g.53679141T>C GRCh37
NC_000001.9:g.53451729T>C NCBI36
NG_008035.1:g.22041T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1851T>C MANE Select ENSP00000360541.3:p.His617=
ENST00000635862.1:c.1818T>C ENSP00000490867.1:p.His606=
ENST00000635888.1:c.*1837T>C ENSP00000490042.1:n.*1837T>C
ENST00000636239.1:c.*1498T>C ENSP00000490066.1:n.*1498T>C
ENST00000636867.1:c.1782T>C ENSP00000489631.1:p.His594=
ENST00000636891.1:c.*104T>C ENSP00000490399.1:n.*104T>C
ENST00000636935.1:c.546T>C ENSP00000489757.1:p.His182=
ENST00000637252.1:c.1887T>C ENSP00000490492.1:p.His629=
ENST00000638135.1:c.*1498T>C ENSP00000489756.1:n.*1498T>C
ENST00000371486.3:c.1851T>C ENSP00000360541.3:p.His617=
NM_000098.2:c.1851T>C NP_000089.1:p.His617=
XM_005270484.1:c.1782T>C XP_005270541.1:p.His594=
NM_001330589.1:c.1782T>C NP_001317518.1:p.His594=
NM_000098.3:c.1851T>C MANE Select NP_000089.1:p.His617=
NM_001330589.2:c.1782T>C NP_001317518.1:p.His594=