Canonical Allele Identifier: CA522907688
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1189610132
gnomAD v2: 1-53662399-T-C
gnomAD v3: 1-53196727-T-C
gnomAD v4: 1-53196727-T-C
MyVariant Identifiers: chr1:g.53662399T>C (hg19) chr1:g.53196727T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196727T>C , CM000663.2:g.53196727T>C GRCh38
NC_000001.10:g.53662399T>C , CM000663.1:g.53662399T>C GRCh37
NC_000001.9:g.53434987T>C NCBI36
NG_008035.1:g.5299T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-217T>C ENSP00000360541.3:n.-217T>C
NM_000098.2:c.-217T>C NP_000089.1:n.-217T>C
NM_001330589.1:c.-217T>C NP_001317518.1:n.-217T>C
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