Canonical Allele Identifier: CA736875830
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1315923199
gnomAD v3: 1-53196686-A-C
gnomAD v4: 1-53196686-A-C
MyVariant Identifiers: chr1:g.53662358A>C (hg19) chr1:g.53196686A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196686A>C , CM000663.2:g.53196686A>C GRCh38
NC_000001.10:g.53662358A>C , CM000663.1:g.53662358A>C GRCh37
NC_000001.9:g.53434946A>C NCBI36
NG_008035.1:g.5258A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-258A>C ENSP00000360541.3:n.-258A>C
NM_000098.2:c.-258A>C NP_000089.1:n.-258A>C
NM_001330589.1:c.-258A>C NP_001317518.1:n.-258A>C
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