Canonical Allele Identifier: CA2645706322
Gene: CPT2 HGNC NCBI

Linked Data

gnomAD v4: 1-53196634-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196634G>T , CM000663.2:g.53196634G>T GRCh38
NC_000001.10:g.53662306G>T , CM000663.1:g.53662306G>T GRCh37
NC_000001.9:g.53434894G>T NCBI36
NG_008035.1:g.5206G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-310G>T ENSP00000360541.3:n.-310G>T
NM_000098.2:c.-310G>T NP_000089.1:n.-310G>T
NM_001330589.1:c.-310G>T NP_001317518.1:n.-310G>T