Canonical Allele Identifier: CA859204

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2680944
• ClinVar RCV Id: RCV003475737 ; RCV003581941
• dbSNP Id: rs757126340
• ExAC: 1:53676786 GCAGA / G
• gnomAD v2: 1-53676786-GCAGA-G
• gnomAD v4: 1-53211114-GCAGA-G
• MyVariant Identifiers: chr1:g.53676787_53676790del (hg19) ; chr1:g.53211115_53211118del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211118_53211121del , CM000663.2:g.53211118_53211121del	GRCh38
NC_000001.10:g.53676790_53676793del , CM000663.1:g.53676790_53676793del	GRCh37
NC_000001.9:g.53449378_53449381del	NCBI36
NG_008035.1:g.19690_19693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1444_1447del MANE Select	ENSP00000360541.3:p.Thr482TrpfsTer?
ENST00000635862.1:c.1444_1447del	ENSP00000490867.1:p.Thr482TrpfsTer?
ENST00000635888.1:c.*1430_*1433del	ENSP00000490042.1:n.*1430_*1433del
ENST00000636239.1:c.*1091_*1094del	ENSP00000490066.1:n.*1091_*1094del
ENST00000636867.1:c.1444_1447del	ENSP00000489631.1:p.Thr482TrpfsTer?
ENST00000636891.1:c.1444_1447del	ENSP00000490399.1:p.Thr482TrpfsTer?
ENST00000636935.1:c.341-2146_341-2143del	ENSP00000489757.1:n.341-2146_341-2143del
ENST00000637252.1:c.1444_1447del	ENSP00000490492.1:p.Thr482TrpfsTer?
ENST00000637726.1:n.3644_3647del
ENST00000638135.1:c.*1091_*1094del	ENSP00000489756.1:n.*1091_*1094del
ENST00000371486.3:c.1444_1447del	ENSP00000360541.3:p.Thr482TrpfsTer?
NM_000098.2:c.1444_1447del	NP_000089.1:p.Thr482TrpfsTer?
XM_005270484.1:c.1444_1447del	XP_005270541.1:p.Thr482TrpfsTer?
NM_001330589.1:c.1444_1447del	NP_001317518.1:p.Thr482TrpfsTer?
NM_000098.3:c.1444_1447del MANE Select	NP_000089.1:p.Thr482TrpfsTer?
NM_001330589.2:c.1444_1447del	NP_001317518.1:p.Thr482TrpfsTer?