Canonical Allele Identifier: CA2645706402
Gene: CPT2 HGNC NCBI

Linked Data

gnomAD v4: 1-53196728-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196728A>T , CM000663.2:g.53196728A>T GRCh38
NC_000001.10:g.53662400A>T , CM000663.1:g.53662400A>T GRCh37
NC_000001.9:g.53434988A>T NCBI36
NG_008035.1:g.5300A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-216A>T ENSP00000360541.3:n.-216A>T
NM_000098.2:c.-216A>T NP_000089.1:n.-216A>T
NM_001330589.1:c.-216A>T NP_001317518.1:n.-216A>T