Canonical Allele Identifier: CA2645706294
Gene: CPT2 HGNC NCBI

Linked Data

gnomAD v4: 1-53196610-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196610C>G , CM000663.2:g.53196610C>G GRCh38
NC_000001.10:g.53662282C>G , CM000663.1:g.53662282C>G GRCh37
NC_000001.9:g.53434870C>G NCBI36
NG_008035.1:g.5182C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-334C>G ENSP00000360541.3:n.-334C>G
NM_000098.2:c.-334C>G NP_000089.1:n.-334C>G
NM_001330589.1:c.-334C>G NP_001317518.1:n.-334C>G