Canonical Allele Identifier: CA22625963
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs974796553
gnomAD v2: 1-53662283-T-C
gnomAD v3: 1-53196611-T-C
gnomAD v4: 1-53196611-T-C
MyVariant Identifiers: chr1:g.53662283T>C (hg19) chr1:g.53196611T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196611T>C , CM000663.2:g.53196611T>C GRCh38
NC_000001.10:g.53662283T>C , CM000663.1:g.53662283T>C GRCh37
NC_000001.9:g.53434871T>C NCBI36
NG_008035.1:g.5183T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-333T>C ENSP00000360541.3:n.-333T>C
NM_000098.2:c.-333T>C NP_000089.1:n.-333T>C
NM_001330589.1:c.-333T>C NP_001317518.1:n.-333T>C
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