Canonical Allele Identifier: CA2645711085
Gene: CPT2 HGNC NCBI

Linked Data

gnomAD v4: 1-53213184-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53213184C>G , CM000663.2:g.53213184C>G GRCh38
NC_000001.10:g.53678856C>G , CM000663.1:g.53678856C>G GRCh37
NC_000001.9:g.53451444C>G NCBI36
NG_008035.1:g.21756C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1646-80C>G MANE Select ENSP00000360541.3:n.1646-80C>G
ENST00000635862.1:c.1613-80C>G ENSP00000490867.1:n.1613-80C>G
ENST00000635888.1:c.*1632-80C>G ENSP00000490042.1:n.*1632-80C>G
ENST00000636239.1:c.*1293-80C>G ENSP00000490066.1:n.*1293-80C>G
ENST00000636867.1:c.1577-80C>G ENSP00000489631.1:n.1577-80C>G
ENST00000636891.1:c.1696-80C>G ENSP00000490399.1:n.1696-80C>G
ENST00000636935.1:c.341-80C>G ENSP00000489757.1:n.341-80C>G
ENST00000637252.1:c.1682-80C>G ENSP00000490492.1:n.1682-80C>G
ENST00000638135.1:c.*1293-80C>G ENSP00000489756.1:n.*1293-80C>G
ENST00000371486.3:c.1646-80C>G ENSP00000360541.3:n.1646-80C>G
NM_000098.2:c.1646-80C>G NP_000089.1:n.1646-80C>G
XM_005270484.1:c.1577-80C>G XP_005270541.1:n.1577-80C>G
NM_001330589.1:c.1577-80C>G NP_001317518.1:n.1577-80C>G
NM_000098.3:c.1646-80C>G MANE Select NP_000089.1:n.1646-80C>G
NM_001330589.2:c.1577-80C>G NP_001317518.1:n.1577-80C>G