Canonical Allele Identifier: CA22637671
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022212
ClinVar RCV Id: RCV001322092
dbSNP Id: rs141505320
gnomAD v2: 1-53675794-A-C
gnomAD v3: 1-53210122-A-C
gnomAD v4: 1-53210122-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210122A>C , CM000663.2:g.53210122A>C GRCh38
NC_000001.10:g.53675794A>C , CM000663.1:g.53675794A>C GRCh37
NC_000001.9:g.53448382A>C NCBI36
NG_008035.1:g.18694A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.448A>C MANE Select ENSP00000360541.3:p.Thr150Pro
ENST00000635862.1:c.448A>C ENSP00000490867.1:p.Thr150Pro
ENST00000635888.1:c.*434A>C ENSP00000490042.1:n.*434A>C
ENST00000636239.1:c.*95A>C ENSP00000490066.1:n.*95A>C
ENST00000636867.1:c.448A>C ENSP00000489631.1:p.Thr150Pro
ENST00000636891.1:c.448A>C ENSP00000490399.1:p.Thr150Pro
ENST00000636935.1:c.341-3142A>C ENSP00000489757.1:n.341-3142A>C
ENST00000637252.1:c.448A>C ENSP00000490492.1:p.Thr150Pro
ENST00000637726.1:n.2648A>C
ENST00000638135.1:c.*95A>C ENSP00000489756.1:n.*95A>C
ENST00000371486.3:c.448A>C ENSP00000360541.3:p.Thr150Pro
NM_000098.2:c.448A>C NP_000089.1:p.Thr150Pro
XM_005270484.1:c.448A>C XP_005270541.1:p.Thr150Pro
NM_001330589.1:c.448A>C NP_001317518.1:p.Thr150Pro
NM_000098.3:c.448A>C MANE Select NP_000089.1:p.Thr150Pro
NM_001330589.2:c.448A>C NP_001317518.1:p.Thr150Pro