Canonical Allele Identifier: CA22625990
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1034764442
gnomAD v3: 1-53196667-A-G
gnomAD v4: 1-53196667-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196667A>G , CM000663.2:g.53196667A>G GRCh38
NC_000001.10:g.53662339A>G , CM000663.1:g.53662339A>G GRCh37
NC_000001.9:g.53434927A>G NCBI36
NG_008035.1:g.5239A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-277A>G ENSP00000360541.3:n.-277A>G
NM_000098.2:c.-277A>G NP_000089.1:n.-277A>G
NM_001330589.1:c.-277A>G NP_001317518.1:n.-277A>G