Canonical Allele Identifier: CA736875888
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1459540679
gnomAD v2: 1-53662404-G-A
gnomAD v3: 1-53196732-G-A
gnomAD v4: 1-53196732-G-A
MyVariant Identifiers: chr1:g.53662404G>A (hg19) chr1:g.53196732G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196732G>A , CM000663.2:g.53196732G>A GRCh38
NC_000001.10:g.53662404G>A , CM000663.1:g.53662404G>A GRCh37
NC_000001.9:g.53434992G>A NCBI36
NG_008035.1:g.5304G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-212G>A ENSP00000360541.3:n.-212G>A
NM_000098.2:c.-212G>A NP_000089.1:n.-212G>A
NM_001330589.1:c.-212G>A NP_001317518.1:n.-212G>A
Search 100 bp 5'
Search 100 bp 3'