Canonical Allele Identifier: CA2645711565

Gene: CPT2

Linked Data

• gnomAD v4: 1-53210314-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210316_53210317del , CM000663.2:g.53210316_53210317del	GRCh38
NC_000001.10:g.53675988_53675989del , CM000663.1:g.53675988_53675989del	GRCh37
NC_000001.9:g.53448576_53448577del	NCBI36
NG_008035.1:g.18888_18889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.642_643del MANE Select	ENSP00000360541.3:p.Met214IlefsTer19
ENST00000635862.1:c.642_643del	ENSP00000490867.1:p.Met214IlefsTer19
ENST00000635888.1:c.*628_*629del	ENSP00000490042.1:n.*628_*629del
ENST00000636239.1:c.*289_*290del	ENSP00000490066.1:n.*289_*290del
ENST00000636867.1:c.642_643del	ENSP00000489631.1:p.Met214IlefsTer19
ENST00000636891.1:c.642_643del	ENSP00000490399.1:p.Met214IlefsTer19
ENST00000636935.1:c.341-2948_341-2947del	ENSP00000489757.1:n.341-2948_341-2947del
ENST00000637252.1:c.642_643del	ENSP00000490492.1:p.Met214IlefsTer19
ENST00000637726.1:n.2842_2843del
ENST00000638135.1:c.*289_*290del	ENSP00000489756.1:n.*289_*290del
ENST00000371486.3:c.642_643del	ENSP00000360541.3:p.Met214IlefsTer19
NM_000098.2:c.642_643del	NP_000089.1:p.Met214IlefsTer19
XM_005270484.1:c.642_643del	XP_005270541.1:p.Met214IlefsTer19
NM_001330589.1:c.642_643del	NP_001317518.1:p.Met214IlefsTer19
NM_000098.3:c.642_643del MANE Select	NP_000089.1:p.Met214IlefsTer19
NM_001330589.2:c.642_643del	NP_001317518.1:p.Met214IlefsTer19