Canonical Allele Identifier: CA522907678
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1299049100
gnomAD v2: 1-53662362-G-A
gnomAD v3: 1-53196690-G-A
gnomAD v4: 1-53196690-G-A
MyVariant Identifiers: chr1:g.53662362G>A (hg19) chr1:g.53196690G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196690G>A , CM000663.2:g.53196690G>A GRCh38
NC_000001.10:g.53662362G>A , CM000663.1:g.53662362G>A GRCh37
NC_000001.9:g.53434950G>A NCBI36
NG_008035.1:g.5262G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-254G>A ENSP00000360541.3:n.-254G>A
NM_000098.2:c.-254G>A NP_000089.1:n.-254G>A
NM_001330589.1:c.-254G>A NP_001317518.1:n.-254G>A
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