Canonical Allele Identifier: CA2598073559
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1645321965
gnomAD v3: 1-53196717-C-A
gnomAD v4: 1-53196717-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196717C>A , CM000663.2:g.53196717C>A GRCh38
NC_000001.10:g.53662389C>A , CM000663.1:g.53662389C>A GRCh37
NC_000001.9:g.53434977C>A NCBI36
NG_008035.1:g.5289C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-227C>A ENSP00000360541.3:n.-227C>A
NM_000098.2:c.-227C>A NP_000089.1:n.-227C>A
NM_001330589.1:c.-227C>A NP_001317518.1:n.-227C>A
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