Canonical Allele Identifier: CA1001798228
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1286157190
gnomAD v3: 1-53196751-C-A
gnomAD v4: 1-53196751-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196751C>A , CM000663.2:g.53196751C>A GRCh38
NC_000001.10:g.53662423C>A , CM000663.1:g.53662423C>A GRCh37
NC_000001.9:g.53435011C>A NCBI36
NG_008035.1:g.5323C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-193C>A ENSP00000360541.3:n.-193C>A
NM_000098.2:c.-193C>A NP_000089.1:n.-193C>A
NM_001330589.1:c.-193C>A NP_001317518.1:n.-193C>A
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