Canonical Allele Identifier: CA340397854

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213501A>G , CM000663.2:g.53213501A>G	GRCh38
NC_000001.10:g.53679173A>G , CM000663.1:g.53679173A>G	GRCh37
NC_000001.9:g.53451761A>G	NCBI36
NG_008035.1:g.22073A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1883A>G MANE Select	ENSP00000360541.3:p.Tyr628Cys
ENST00000635862.1:c.1850A>G	ENSP00000490867.1:p.Tyr617Cys
ENST00000635888.1:c.*1869A>G	ENSP00000490042.1:n.*1869A>G
ENST00000636239.1:c.*1530A>G	ENSP00000490066.1:n.*1530A>G
ENST00000636867.1:c.1814A>G	ENSP00000489631.1:p.Tyr605Cys
ENST00000636891.1:c.*136A>G	ENSP00000490399.1:n.*136A>G
ENST00000636935.1:c.578A>G	ENSP00000489757.1:p.Tyr193Cys
ENST00000637252.1:c.1919A>G	ENSP00000490492.1:p.Tyr640Cys
ENST00000638135.1:c.*1530A>G	ENSP00000489756.1:n.*1530A>G
ENST00000371486.3:c.1883A>G	ENSP00000360541.3:p.Tyr628Cys
NM_000098.2:c.1883A>G	NP_000089.1:p.Tyr628Cys
XM_005270484.1:c.1814A>G	XP_005270541.1:p.Tyr605Cys
NM_001330589.1:c.1814A>G	NP_001317518.1:p.Tyr605Cys
NM_000098.3:c.1883A>G MANE Select	NP_000089.1:p.Tyr628Cys
NM_001330589.2:c.1814A>G	NP_001317518.1:p.Tyr605Cys