Canonical Allele Identifier: CA2580063045

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2021599
• ClinVar RCV Id: RCV002862775

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210230_53210231del , CM000663.2:g.53210230_53210231del	GRCh38
NC_000001.10:g.53675902_53675903del , CM000663.1:g.53675902_53675903del	GRCh37
NC_000001.9:g.53448490_53448491del	NCBI36
NG_008035.1:g.18802_18803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.556_557del MANE Select	ENSP00000360541.3:p.Ile186HisfsTer?
ENST00000635862.1:c.556_557del	ENSP00000490867.1:p.Ile186HisfsTer?
ENST00000635888.1:c.*542_*543del	ENSP00000490042.1:n.*542_*543del
ENST00000636239.1:c.*203_*204del	ENSP00000490066.1:n.*203_*204del
ENST00000636867.1:c.556_557del	ENSP00000489631.1:p.Ile186HisfsTer?
ENST00000636891.1:c.556_557del	ENSP00000490399.1:p.Ile186HisfsTer?
ENST00000636935.1:c.341-3034_341-3033del	ENSP00000489757.1:n.341-3034_341-3033del
ENST00000637252.1:c.556_557del	ENSP00000490492.1:p.Ile186HisfsTer?
ENST00000637726.1:n.2756_2757del
ENST00000638135.1:c.*203_*204del	ENSP00000489756.1:n.*203_*204del
ENST00000371486.3:c.556_557del	ENSP00000360541.3:p.Ile186HisfsTer?
NM_000098.2:c.556_557del	NP_000089.1:p.Ile186HisfsTer?
XM_005270484.1:c.556_557del	XP_005270541.1:p.Ile186HisfsTer?
NM_001330589.1:c.556_557del	NP_001317518.1:p.Ile186HisfsTer?
NM_000098.3:c.556_557del MANE Select	NP_000089.1:p.Ile186HisfsTer?
NM_001330589.2:c.556_557del	NP_001317518.1:p.Ile186HisfsTer?