Canonical Allele Identifier: CA22625989
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs764839327
gnomAD v2: 1-53662336-C-T
gnomAD v3: 1-53196664-C-T
gnomAD v4: 1-53196664-C-T
MyVariant Identifiers: chr1:g.53662336C>T (hg19) chr1:g.53196664C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196664C>T , CM000663.2:g.53196664C>T GRCh38
NC_000001.10:g.53662336C>T , CM000663.1:g.53662336C>T GRCh37
NC_000001.9:g.53434924C>T NCBI36
NG_008035.1:g.5236C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-280C>T ENSP00000360541.3:n.-280C>T
NM_000098.2:c.-280C>T NP_000089.1:n.-280C>T
NM_001330589.1:c.-280C>T NP_001317518.1:n.-280C>T
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