Canonical Allele Identifier: CA22626187
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs796768548
gnomAD v2: 1-53662457-A-C
gnomAD v3: 1-53196785-A-C
gnomAD v4: 1-53196785-A-C
MyVariant Identifiers: chr1:g.53662457A>C (hg19) chr1:g.53196785A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196785A>C , CM000663.2:g.53196785A>C GRCh38
NC_000001.10:g.53662457A>C , CM000663.1:g.53662457A>C GRCh37
NC_000001.9:g.53435045A>C NCBI36
NG_008035.1:g.5357A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-159A>C ENSP00000360541.3:n.-159A>C
NM_000098.2:c.-159A>C NP_000089.1:n.-159A>C
XM_005270484.1:c.-159A>C XP_005270541.1:n.-159A>C
NM_001330589.1:c.-159A>C NP_001317518.1:n.-159A>C
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