Canonical Allele Identifier: CA22625950

Gene: CPT2

Linked Data

• dbSNP Id: rs892363894
• gnomAD v3: 1-53196572-G-A
• gnomAD v4: 1-53196572-G-A
• MyVariant Identifiers: chr1:g.53662244G>A (hg19) ; chr1:g.53196572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196572G>A , CM000663.2:g.53196572G>A	GRCh38
NC_000001.10:g.53662244G>A , CM000663.1:g.53662244G>A	GRCh37
NC_000001.9:g.53434832G>A	NCBI36
NG_008035.1:g.5144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.3:c.-372G>A	ENSP00000360541.3:n.-372G>A
NM_000098.2:c.-372G>A	NP_000089.1:n.-372G>A
NM_001330589.1:c.-372G>A	NP_001317518.1:n.-372G>A