Canonical Allele Identifier: CA859003

Gene: CPT2

Linked Data

• dbSNP Id: rs775776515
• ExAC: 1:53675886 TGCAAAAAGTGACACTATC / T
• gnomAD v2: 1-53675886-TGCAAAAAGTGACACTATC-T
• gnomAD v3: 1-53210214-TGCAAAAAGTGACACTATC-T
• gnomAD v4: 1-53210214-TGCAAAAAGTGACACTATC-T
• MyVariant Identifiers: chr1:g.53675887_53675904del (hg19) ; chr1:g.53210215_53210232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210215_53210232del , CM000663.2:g.53210215_53210232del	GRCh38
NC_000001.10:g.53675887_53675904del , CM000663.1:g.53675887_53675904del	GRCh37
NC_000001.9:g.53448475_53448492del	NCBI36
NG_008035.1:g.18787_18804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.541_558del MANE Select	ENSP00000360541.3:p.Ala181_Ile186del
ENST00000635862.1:c.541_558del	ENSP00000490867.1:p.Ala181_Ile186del
ENST00000635888.1:c.*527_*544del	ENSP00000490042.1:n.*527_*544del
ENST00000636239.1:c.*188_*205del	ENSP00000490066.1:n.*188_*205del
ENST00000636867.1:c.541_558del	ENSP00000489631.1:p.Ala181_Ile186del
ENST00000636891.1:c.541_558del	ENSP00000490399.1:p.Ala181_Ile186del
ENST00000636935.1:c.341-3049_341-3032del	ENSP00000489757.1:n.341-3049_341-3032del
ENST00000637252.1:c.541_558del	ENSP00000490492.1:p.Ala181_Ile186del
ENST00000637726.1:n.2741_2758del
ENST00000638135.1:c.*188_*205del	ENSP00000489756.1:n.*188_*205del
ENST00000371486.3:c.541_558del	ENSP00000360541.3:p.Ala181_Ile186del
NM_000098.2:c.541_558del	NP_000089.1:p.Ala181_Ile186del
XM_005270484.1:c.541_558del	XP_005270541.1:p.Ala181_Ile186del
NM_001330589.1:c.541_558del	NP_001317518.1:p.Ala181_Ile186del
NM_000098.3:c.541_558del MANE Select	NP_000089.1:p.Ala181_Ile186del
NM_001330589.2:c.541_558del	NP_001317518.1:p.Ala181_Ile186del