Canonical Allele Identifier: CA2574373947

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211022_53211025dup , CM000663.2:g.53211022_53211025dup	GRCh38
NC_000001.10:g.53676694_53676697dup , CM000663.1:g.53676694_53676697dup	GRCh37
NC_000001.9:g.53449282_53449285dup	NCBI36
NG_008035.1:g.19594_19597dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1348_1351dup MANE Select	ENSP00000360541.3:p.Gly451GlufsTer15
ENST00000635862.1:c.1348_1351dup	ENSP00000490867.1:p.Gly451GlufsTer15
ENST00000635888.1:c.*1334_*1337dup	ENSP00000490042.1:n.*1334_*1337dup
ENST00000636239.1:c.*995_*998dup	ENSP00000490066.1:n.*995_*998dup
ENST00000636867.1:c.1348_1351dup	ENSP00000489631.1:p.Gly451GlufsTer15
ENST00000636891.1:c.1348_1351dup	ENSP00000490399.1:p.Gly451GlufsTer15
ENST00000636935.1:c.341-2242_341-2239dup	ENSP00000489757.1:n.341-2242_341-2239dup
ENST00000637252.1:c.1348_1351dup	ENSP00000490492.1:p.Gly451GlufsTer15
ENST00000637726.1:n.3548_3551dup
ENST00000638135.1:c.*995_*998dup	ENSP00000489756.1:n.*995_*998dup
ENST00000371486.3:c.1348_1351dup	ENSP00000360541.3:p.Gly451GlufsTer15
NM_000098.2:c.1348_1351dup	NP_000089.1:p.Gly451GlufsTer15
XM_005270484.1:c.1348_1351dup	XP_005270541.1:p.Gly451GlufsTer15
NM_001330589.1:c.1348_1351dup	NP_001317518.1:p.Gly451GlufsTer15
NM_000098.3:c.1348_1351dup MANE Select	NP_000089.1:p.Gly451GlufsTer15
NM_001330589.2:c.1348_1351dup	NP_001317518.1:p.Gly451GlufsTer15