Canonical Allele Identifier: CA22626105
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs905632444
gnomAD v4: 1-53196726-C-G
MyVariant Identifiers: chr1:g.53662398C>G (hg19) chr1:g.53196726C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196726C>G , CM000663.2:g.53196726C>G GRCh38
NC_000001.10:g.53662398C>G , CM000663.1:g.53662398C>G GRCh37
NC_000001.9:g.53434986C>G NCBI36
NG_008035.1:g.5298C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-218C>G ENSP00000360541.3:n.-218C>G
NM_000098.2:c.-218C>G NP_000089.1:n.-218C>G
NM_001330589.1:c.-218C>G NP_001317518.1:n.-218C>G
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