Canonical Allele Identifier: CA2645706380
Gene: CPT2 HGNC NCBI

Linked Data

gnomAD v4: 1-53196704-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196704G>C , CM000663.2:g.53196704G>C GRCh38
NC_000001.10:g.53662376G>C , CM000663.1:g.53662376G>C GRCh37
NC_000001.9:g.53434964G>C NCBI36
NG_008035.1:g.5276G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-240G>C ENSP00000360541.3:n.-240G>C
NM_000098.2:c.-240G>C NP_000089.1:n.-240G>C
NM_001330589.1:c.-240G>C NP_001317518.1:n.-240G>C