Canonical Allele Identifier: CA2831039356

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210953_53210954dup , CM000663.2:g.53210953_53210954dup	GRCh38
NC_000001.10:g.53676625_53676626dup , CM000663.1:g.53676625_53676626dup	GRCh37
NC_000001.9:g.53449213_53449214dup	NCBI36
NG_008035.1:g.19525_19526dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1279_1280dup MANE Select	ENSP00000360541.3:p.Thr428SerfsTer12
ENST00000635862.1:c.1279_1280dup	ENSP00000490867.1:p.Thr428SerfsTer12
ENST00000635888.1:c.*1265_*1266dup	ENSP00000490042.1:n.*1265_*1266dup
ENST00000636239.1:c.*926_*927dup	ENSP00000490066.1:n.*926_*927dup
ENST00000636867.1:c.1279_1280dup	ENSP00000489631.1:p.Thr428SerfsTer12
ENST00000636891.1:c.1279_1280dup	ENSP00000490399.1:p.Thr428SerfsTer12
ENST00000636935.1:c.341-2311_341-2310dup	ENSP00000489757.1:n.341-2311_341-2310dup
ENST00000637252.1:c.1279_1280dup	ENSP00000490492.1:p.Thr428SerfsTer12
ENST00000637726.1:n.3479_3480dup
ENST00000638135.1:c.*926_*927dup	ENSP00000489756.1:n.*926_*927dup
ENST00000371486.3:c.1279_1280dup	ENSP00000360541.3:p.Thr428SerfsTer12
NM_000098.2:c.1279_1280dup	NP_000089.1:p.Thr428SerfsTer12
XM_005270484.1:c.1279_1280dup	XP_005270541.1:p.Thr428SerfsTer12
NM_001330589.1:c.1279_1280dup	NP_001317518.1:p.Thr428SerfsTer12
NM_000098.3:c.1279_1280dup MANE Select	NP_000089.1:p.Thr428SerfsTer12
NM_001330589.2:c.1279_1280dup	NP_001317518.1:p.Thr428SerfsTer12