Canonical Allele Identifier: CA10610091
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 297594
ClinVar RCV Id: RCV000313432 RCV002487316 RCV003445913 RCV003445910 RCV003445911 RCV003445912
dbSNP Id: rs886046402
gnomAD v2: 1-53662334-C-T
gnomAD v3: 1-53196662-C-T
gnomAD v4: 1-53196662-C-T
MyVariant Identifiers: chr1:g.53662334C>T (hg19) chr1:g.53196662C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196662C>T , CM000663.2:g.53196662C>T GRCh38
NC_000001.10:g.53662334C>T , CM000663.1:g.53662334C>T GRCh37
NC_000001.9:g.53434922C>T NCBI36
NG_008035.1:g.5234C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-282C>T ENSP00000360541.3:n.-282C>T
NM_000098.2:c.-282C>T NP_000089.1:n.-282C>T
NM_001330589.1:c.-282C>T NP_001317518.1:n.-282C>T
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