Canonical Allele Identifier: CA254609

Gene: CPT2

Linked Data

• ClinVar Variation Id: 8957
• ClinVar RCV Id: RCV000009516 ; RCV000202437 ; RCV003473064
• dbSNP Id: rs28936674
• ExAC: 1:53675866 G / A
• gnomAD v2: 1-53675866-G-A
• gnomAD v3: 1-53210194-G-A
• gnomAD v4: 1-53210194-G-A
• MyVariant Identifiers: chr1:g.53675866G>A (hg19) ; chr1:g.53210194G>A (hg38)
• PubMed: PMID:8682496 ; PMID:20301431

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210194G>A , CM000663.2:g.53210194G>A	GRCh38
NC_000001.10:g.53675866G>A , CM000663.1:g.53675866G>A	GRCh37
NC_000001.9:g.53448454G>A	NCBI36
NG_008035.1:g.18766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.520G>A MANE Select	ENSP00000360541.3:p.Glu174Lys
ENST00000635862.1:c.520G>A	ENSP00000490867.1:p.Glu174Lys
ENST00000635888.1:c.*506G>A	ENSP00000490042.1:n.*506G>A
ENST00000636239.1:c.*167G>A	ENSP00000490066.1:n.*167G>A
ENST00000636867.1:c.520G>A	ENSP00000489631.1:p.Glu174Lys
ENST00000636891.1:c.520G>A	ENSP00000490399.1:p.Glu174Lys
ENST00000636935.1:c.341-3070G>A	ENSP00000489757.1:n.341-3070G>A
ENST00000637252.1:c.520G>A	ENSP00000490492.1:p.Glu174Lys
ENST00000637726.1:n.2720G>A
ENST00000638135.1:c.*167G>A	ENSP00000489756.1:n.*167G>A
ENST00000371486.3:c.520G>A	ENSP00000360541.3:p.Glu174Lys
NM_000098.2:c.520G>A	NP_000089.1:p.Glu174Lys
XM_005270484.1:c.520G>A	XP_005270541.1:p.Glu174Lys
NM_001330589.1:c.520G>A	NP_001317518.1:p.Glu174Lys
NM_000098.3:c.520G>A MANE Select	NP_000089.1:p.Glu174Lys
NM_001330589.2:c.520G>A	NP_001317518.1:p.Glu174Lys