Canonical Allele Identifier: CA417875393

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213514T>C , CM000663.2:g.53213514T>C	GRCh38
NC_000001.10:g.53679186T>C , CM000663.1:g.53679186T>C	GRCh37
NC_000001.9:g.53451774T>C	NCBI36
NG_008035.1:g.22086T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1896T>C MANE Select	ENSP00000360541.3:p.Asn632=
ENST00000635862.1:c.1863T>C	ENSP00000490867.1:p.Asn621=
ENST00000635888.1:c.*1882T>C	ENSP00000490042.1:n.*1882T>C
ENST00000636239.1:c.*1543T>C	ENSP00000490066.1:n.*1543T>C
ENST00000636867.1:c.1827T>C	ENSP00000489631.1:p.Asn609=
ENST00000636891.1:c.*149T>C	ENSP00000490399.1:n.*149T>C
ENST00000636935.1:c.591T>C	ENSP00000489757.1:p.Asn197=
ENST00000637252.1:c.1932T>C	ENSP00000490492.1:p.Asn644=
ENST00000638135.1:c.*1543T>C	ENSP00000489756.1:n.*1543T>C
ENST00000371486.3:c.1896T>C	ENSP00000360541.3:p.Asn632=
NM_000098.2:c.1896T>C	NP_000089.1:p.Asn632=
XM_005270484.1:c.1827T>C	XP_005270541.1:p.Asn609=
NM_001330589.1:c.1827T>C	NP_001317518.1:p.Asn609=
NM_000098.3:c.1896T>C MANE Select	NP_000089.1:p.Asn632=
NM_001330589.2:c.1827T>C	NP_001317518.1:p.Asn609=