Canonical Allele Identifier: CA254606

Gene: CPT2

Linked Data

• ClinVar Variation Id: 8954
• ClinVar RCV Id: RCV000009511 ; RCV000009512 ; RCV000202440 ; RCV000440440 ; RCV000762941 ; RCV000735345 ; RCV003473063
• dbSNP Id: rs28936375
• ExAC: 1:53662764 C / A
• gnomAD v2: 1-53662764-C-A
• gnomAD v3: 1-53197092-C-A
• gnomAD v4: 1-53197092-C-A
• MyVariant Identifiers: chr1:g.53662764C>A (hg19) ; chr1:g.53197092C>A (hg38)
• PubMed: PMID:7711730 ; PMID:9600456 ; PMID:12410208 ; PMID:15622536 ; PMID:16996287 ; PMID:17936304 ; PMID:20301431 ; PMID:22975760

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53197092C>A , CM000663.2:g.53197092C>A	GRCh38
NC_000001.10:g.53662764C>A , CM000663.1:g.53662764C>A	GRCh37
NC_000001.9:g.53435352C>A	NCBI36
NG_008035.1:g.5664C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.149C>A MANE Select	ENSP00000360541.3:p.Pro50His
ENST00000468572.2:n.234C>A
ENST00000635862.1:c.149C>A	ENSP00000490867.1:p.Pro50His
ENST00000635888.1:c.149C>A	ENSP00000490042.1:p.Pro50His
ENST00000636239.1:c.149C>A	ENSP00000490066.1:p.Pro50His
ENST00000636867.1:c.149C>A	ENSP00000489631.1:p.Pro50His
ENST00000636891.1:c.149C>A	ENSP00000490399.1:p.Pro50His
ENST00000636935.1:c.149C>A	ENSP00000489757.1:p.Pro50His
ENST00000637252.1:c.149C>A	ENSP00000490492.1:p.Pro50His
ENST00000638135.1:c.149C>A	ENSP00000489756.1:p.Pro50His
ENST00000371486.3:c.149C>A	ENSP00000360541.3:p.Pro50His
ENST00000468572.1:n.234C>A
NM_000098.2:c.149C>A	NP_000089.1:p.Pro50His
XM_005270484.1:c.149C>A	XP_005270541.1:p.Pro50His
NM_001330589.1:c.149C>A	NP_001317518.1:p.Pro50His
NM_000098.3:c.149C>A MANE Select	NP_000089.1:p.Pro50His
NM_001330589.2:c.149C>A	NP_001317518.1:p.Pro50His