Canonical Allele Identifier: CA2573132421

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1638170
• ClinVar RCV Id: RCV002138002
• dbSNP Id: rs2100271518

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210006del , CM000663.2:g.53210006del	GRCh38
NC_000001.10:g.53675678del , CM000663.1:g.53675678del	GRCh37
NC_000001.9:g.53448266del	NCBI36
NG_008035.1:g.18578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.341-9del MANE Select	ENSP00000360541.3:n.341-9del
ENST00000635862.1:c.341-9del	ENSP00000490867.1:n.341-9del
ENST00000635888.1:c.*327-9del	ENSP00000490042.1:n.*327-9del
ENST00000636239.1:c.234-9del	ENSP00000490066.1:n.234-9del
ENST00000636867.1:c.341-9del	ENSP00000489631.1:n.341-9del
ENST00000636891.1:c.341-9del	ENSP00000490399.1:n.341-9del
ENST00000636935.1:c.341-3258del	ENSP00000489757.1:n.341-3258del
ENST00000637252.1:c.341-9del	ENSP00000490492.1:n.341-9del
ENST00000637726.1:n.2532del
ENST00000638135.1:c.153-9del	ENSP00000489756.1:n.153-9del
ENST00000371486.3:c.341-9del	ENSP00000360541.3:n.341-9del
NM_000098.2:c.341-9del	NP_000089.1:n.341-9del
XM_005270484.1:c.341-9del	XP_005270541.1:n.341-9del
NM_001330589.1:c.341-9del	NP_001317518.1:n.341-9del
NM_000098.3:c.341-9del MANE Select	NP_000089.1:n.341-9del
NM_001330589.2:c.341-9del	NP_001317518.1:n.341-9del