Canonical Allele Identifier: CA522907690
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1319543450
gnomAD v2: 1-53662450-G-C
gnomAD v3: 1-53196778-G-C
gnomAD v4: 1-53196778-G-C
MyVariant Identifiers: chr1:g.53662450G>C (hg19) chr1:g.53196778G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196778G>C , CM000663.2:g.53196778G>C GRCh38
NC_000001.10:g.53662450G>C , CM000663.1:g.53662450G>C GRCh37
NC_000001.9:g.53435038G>C NCBI36
NG_008035.1:g.5350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-166G>C ENSP00000360541.3:n.-166G>C
NM_000098.2:c.-166G>C NP_000089.1:n.-166G>C
XM_005270484.1:c.-166G>C XP_005270541.1:n.-166G>C
NM_001330589.1:c.-166G>C NP_001317518.1:n.-166G>C
Search 100 bp 5'
Search 100 bp 3'