Canonical Allele Identifier: CA417637687

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53200740A>G , CM000663.2:g.53200740A>G	GRCh38
NC_000001.10:g.53666412A>G , CM000663.1:g.53666412A>G	GRCh37
NC_000001.9:g.53439000A>G	NCBI36
NG_008035.1:g.9312A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.174A>G MANE Select	ENSP00000360541.3:p.Glu58=
ENST00000468572.2:n.259A>G
ENST00000635862.1:c.174A>G	ENSP00000490867.1:p.Glu58=
ENST00000635888.1:c.*160A>G	ENSP00000490042.1:n.*160A>G
ENST00000636239.1:c.174A>G	ENSP00000490066.1:p.Glu58=
ENST00000636673.1:n.964A>G
ENST00000636867.1:c.174A>G	ENSP00000489631.1:p.Glu58=
ENST00000636891.1:c.174A>G	ENSP00000490399.1:p.Glu58=
ENST00000636935.1:c.174A>G	ENSP00000489757.1:p.Glu58=
ENST00000637252.1:c.174A>G	ENSP00000490492.1:p.Glu58=
ENST00000638135.1:c.152+3645A>G	ENSP00000489756.1:n.152+3645A>G
ENST00000371486.3:c.174A>G	ENSP00000360541.3:p.Glu58=
ENST00000468572.1:n.259A>G
NM_000098.2:c.174A>G	NP_000089.1:p.Glu58=
XM_005270484.1:c.174A>G	XP_005270541.1:p.Glu58=
NM_001330589.1:c.174A>G	NP_001317518.1:p.Glu58=
NM_000098.3:c.174A>G MANE Select	NP_000089.1:p.Glu58=
NM_001330589.2:c.174A>G	NP_001317518.1:p.Glu58=