Canonical Allele Identifier: CA2645706324
Gene: CPT2 HGNC NCBI

Linked Data

gnomAD v4: 1-53196635-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196635G>C , CM000663.2:g.53196635G>C GRCh38
NC_000001.10:g.53662307G>C , CM000663.1:g.53662307G>C GRCh37
NC_000001.9:g.53434895G>C NCBI36
NG_008035.1:g.5207G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-309G>C ENSP00000360541.3:n.-309G>C
NM_000098.2:c.-309G>C NP_000089.1:n.-309G>C
NM_001330589.1:c.-309G>C NP_001317518.1:n.-309G>C