Canonical Allele Identifier: CA2695878882

Gene: CPT2

Linked Data

• dbSNP Id: rs2100273601

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210805_53210808dup , CM000663.2:g.53210805_53210808dup	GRCh38
NC_000001.10:g.53676477_53676480dup , CM000663.1:g.53676477_53676480dup	GRCh37
NC_000001.9:g.53449065_53449068dup	NCBI36
NG_008035.1:g.19377_19380dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1131_1134dup MANE Select	ENSP00000360541.3:p.Ala379CysfsTer8
ENST00000635862.1:c.1131_1134dup	ENSP00000490867.1:p.Ala379CysfsTer8
ENST00000635888.1:c.*1117_*1120dup	ENSP00000490042.1:n.*1117_*1120dup
ENST00000636239.1:c.*778_*781dup	ENSP00000490066.1:n.*778_*781dup
ENST00000636867.1:c.1131_1134dup	ENSP00000489631.1:p.Ala379CysfsTer8
ENST00000636891.1:c.1131_1134dup	ENSP00000490399.1:p.Ala379CysfsTer8
ENST00000636935.1:c.341-2459_341-2456dup	ENSP00000489757.1:n.341-2459_341-2456dup
ENST00000637252.1:c.1131_1134dup	ENSP00000490492.1:p.Ala379CysfsTer8
ENST00000637726.1:n.3331_3334dup
ENST00000638135.1:c.*778_*781dup	ENSP00000489756.1:n.*778_*781dup
ENST00000371486.3:c.1131_1134dup	ENSP00000360541.3:p.Ala379CysfsTer8
NM_000098.2:c.1131_1134dup	NP_000089.1:p.Ala379CysfsTer8
XM_005270484.1:c.1131_1134dup	XP_005270541.1:p.Ala379CysfsTer8
NM_001330589.1:c.1131_1134dup	NP_001317518.1:p.Ala379CysfsTer8
NM_000098.3:c.1131_1134dup MANE Select	NP_000089.1:p.Ala379CysfsTer8
NM_001330589.2:c.1131_1134dup	NP_001317518.1:p.Ala379CysfsTer8