Canonical Allele Identifier: CA859064

Gene: CPT2

Linked Data

• ClinVar Variation Id: 290583
• ClinVar RCV Id: RCV000310684 ; RCV000813356 ; RCV002502152 ; RCV003454829 ; RCV003454830 ; RCV003454831 ; RCV003456048 ; RCV003967801
• dbSNP Id: rs200906458
• ExAC: 1:53676199 G / A
• gnomAD v2: 1-53676199-G-A
• gnomAD v3: 1-53210527-G-A
• gnomAD v4: 1-53210527-G-A
• MyVariant Identifiers: chr1:g.53676199G>A (hg19) ; chr1:g.53210527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210527G>A , CM000663.2:g.53210527G>A	GRCh38
NC_000001.10:g.53676199G>A , CM000663.1:g.53676199G>A	GRCh37
NC_000001.9:g.53448787G>A	NCBI36
NG_008035.1:g.19099G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.853G>A MANE Select	ENSP00000360541.3:p.Glu285Lys
ENST00000635862.1:c.853G>A	ENSP00000490867.1:p.Glu285Lys
ENST00000635888.1:c.*839G>A	ENSP00000490042.1:n.*839G>A
ENST00000636239.1:c.*500G>A	ENSP00000490066.1:n.*500G>A
ENST00000636867.1:c.853G>A	ENSP00000489631.1:p.Glu285Lys
ENST00000636891.1:c.853G>A	ENSP00000490399.1:p.Glu285Lys
ENST00000636935.1:c.341-2737G>A	ENSP00000489757.1:n.341-2737G>A
ENST00000637252.1:c.853G>A	ENSP00000490492.1:p.Glu285Lys
ENST00000637726.1:n.3053G>A
ENST00000638135.1:c.*500G>A	ENSP00000489756.1:n.*500G>A
ENST00000371486.3:c.853G>A	ENSP00000360541.3:p.Glu285Lys
NM_000098.2:c.853G>A	NP_000089.1:p.Glu285Lys
XM_005270484.1:c.853G>A	XP_005270541.1:p.Glu285Lys
NM_001330589.1:c.853G>A	NP_001317518.1:p.Glu285Lys
NM_000098.3:c.853G>A MANE Select	NP_000089.1:p.Glu285Lys
NM_001330589.2:c.853G>A	NP_001317518.1:p.Glu285Lys