Canonical Allele Identifier: CA1001782790

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2680939
• ClinVar RCV Id: RCV003475732 ; RCV003741358
• dbSNP Id: rs1645420669
• gnomAD v3: 1-53210816-TCA-T
• gnomAD v4: 1-53210816-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210817_53210818del , CM000663.2:g.53210817_53210818del	GRCh38
NC_000001.10:g.53676489_53676490del , CM000663.1:g.53676489_53676490del	GRCh37
NC_000001.9:g.53449077_53449078del	NCBI36
NG_008035.1:g.19389_19390del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1143_1144del MANE Select	ENSP00000360541.3:p.Arg382IlefsTer3
ENST00000635862.1:c.1143_1144del	ENSP00000490867.1:p.Arg382IlefsTer3
ENST00000635888.1:c.*1129_*1130del	ENSP00000490042.1:n.*1129_*1130del
ENST00000636239.1:c.*790_*791del	ENSP00000490066.1:n.*790_*791del
ENST00000636867.1:c.1143_1144del	ENSP00000489631.1:p.Arg382IlefsTer3
ENST00000636891.1:c.1143_1144del	ENSP00000490399.1:p.Arg382IlefsTer3
ENST00000636935.1:c.341-2447_341-2446del	ENSP00000489757.1:n.341-2447_341-2446del
ENST00000637252.1:c.1143_1144del	ENSP00000490492.1:p.Arg382IlefsTer3
ENST00000637726.1:n.3343_3344del
ENST00000638135.1:c.*790_*791del	ENSP00000489756.1:n.*790_*791del
ENST00000371486.3:c.1143_1144del	ENSP00000360541.3:p.Arg382IlefsTer3
NM_000098.2:c.1143_1144del	NP_000089.1:p.Arg382IlefsTer3
XM_005270484.1:c.1143_1144del	XP_005270541.1:p.Arg382IlefsTer3
NM_001330589.1:c.1143_1144del	NP_001317518.1:p.Arg382IlefsTer3
NM_000098.3:c.1143_1144del MANE Select	NP_000089.1:p.Arg382IlefsTer3
NM_001330589.2:c.1143_1144del	NP_001317518.1:p.Arg382IlefsTer3