Canonical Allele Identifier: CA522907679
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1339450809
gnomAD v2: 1-53662365-C-A
gnomAD v3: 1-53196693-C-A
gnomAD v4: 1-53196693-C-A
MyVariant Identifiers: chr1:g.53662365C>A (hg19) chr1:g.53196693C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196693C>A , CM000663.2:g.53196693C>A GRCh38
NC_000001.10:g.53662365C>A , CM000663.1:g.53662365C>A GRCh37
NC_000001.9:g.53434953C>A NCBI36
NG_008035.1:g.5265C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-251C>A ENSP00000360541.3:n.-251C>A
NM_000098.2:c.-251C>A NP_000089.1:n.-251C>A
NM_001330589.1:c.-251C>A NP_001317518.1:n.-251C>A
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