Canonical Allele Identifier: CA859048
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1362426
ClinVar RCV Id: RCV001900172
dbSNP Id: rs775793760
gnomAD v2: 1-53676134-T-C
gnomAD v4: 1-53210462-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210462T>C , CM000663.2:g.53210462T>C GRCh38
NC_000001.10:g.53676134T>C , CM000663.1:g.53676134T>C GRCh37
NC_000001.9:g.53448722T>C NCBI36
NG_008035.1:g.19034T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.788T>C MANE Select ENSP00000360541.3:p.Ile263Thr
ENST00000635862.1:c.788T>C ENSP00000490867.1:p.Ile263Thr
ENST00000635888.1:c.*774T>C ENSP00000490042.1:n.*774T>C
ENST00000636239.1:c.*435T>C ENSP00000490066.1:n.*435T>C
ENST00000636867.1:c.788T>C ENSP00000489631.1:p.Ile263Thr
ENST00000636891.1:c.788T>C ENSP00000490399.1:p.Ile263Thr
ENST00000636935.1:c.341-2802T>C ENSP00000489757.1:n.341-2802T>C
ENST00000637252.1:c.788T>C ENSP00000490492.1:p.Ile263Thr
ENST00000637726.1:n.2988T>C
ENST00000638135.1:c.*435T>C ENSP00000489756.1:n.*435T>C
ENST00000371486.3:c.788T>C ENSP00000360541.3:p.Ile263Thr
NM_000098.2:c.788T>C NP_000089.1:p.Ile263Thr
XM_005270484.1:c.788T>C XP_005270541.1:p.Ile263Thr
NM_001330589.1:c.788T>C NP_001317518.1:p.Ile263Thr
NM_000098.3:c.788T>C MANE Select NP_000089.1:p.Ile263Thr
NM_001330589.2:c.788T>C NP_001317518.1:p.Ile263Thr