Canonical Allele Identifier: CA16040761

Gene: CPT2

Linked Data

• ClinVar Variation Id: 371730
• ClinVar RCV Id: RCV000409757 ; RCV000412215 ; RCV000410873 ; RCV001861402 ; RCV002481265
• dbSNP Id: rs1057517493
• gnomAD v2: 1-53662689-TC-T
• gnomAD v3: 1-53197017-TC-T
• gnomAD v4: 1-53197017-TC-T
• MyVariant Identifiers: chr1:g.53662690del (hg19) ; chr1:g.53197018del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53197018del , CM000663.2:g.53197018del	GRCh38
NC_000001.10:g.53662690del , CM000663.1:g.53662690del	GRCh37
NC_000001.9:g.53435278del	NCBI36
NG_008035.1:g.5590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.75del MANE Select	ENSP00000360541.3:p.Ser26AlafsTer?
ENST00000468572.2:n.160del
ENST00000635862.1:c.75del	ENSP00000490867.1:p.Ser26AlafsTer?
ENST00000635888.1:c.75del	ENSP00000490042.1:p.Ser26AlafsTer?
ENST00000636239.1:c.75del	ENSP00000490066.1:p.Ser26AlafsTer?
ENST00000636867.1:c.75del	ENSP00000489631.1:p.Ser26AlafsTer?
ENST00000636891.1:c.75del	ENSP00000490399.1:p.Ser26AlafsTer?
ENST00000636935.1:c.75del	ENSP00000489757.1:p.Ser26AlafsTer?
ENST00000637252.1:c.75del	ENSP00000490492.1:p.Ser26AlafsTer?
ENST00000638135.1:c.75del	ENSP00000489756.1:p.Ser26AlafsTer?
ENST00000371486.3:c.75del	ENSP00000360541.3:p.Ser26AlafsTer?
ENST00000468572.1:n.160del
NM_000098.2:c.75del	NP_000089.1:p.Ser26AlafsTer?
XM_005270484.1:c.75del	XP_005270541.1:p.Ser26AlafsTer?
NM_001330589.1:c.75del	NP_001317518.1:p.Ser26AlafsTer?
NM_000098.3:c.75del MANE Select	NP_000089.1:p.Ser26AlafsTer?
NM_001330589.2:c.75del	NP_001317518.1:p.Ser26AlafsTer?