Canonical Allele Identifier: CA254613
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8966
ClinVar RCV Id: RCV000009528 RCV001851765
dbSNP Id: rs74315299
MyVariant Identifiers: chr1:g.53676706G>T (hg19) chr1:g.53211034G>T (hg38)
PubMed: PMID:15622536
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53211034G>T , CM000663.2:g.53211034G>T GRCh38
NC_000001.10:g.53676706G>T , CM000663.1:g.53676706G>T GRCh37
NC_000001.9:g.53449294G>T NCBI36
NG_008035.1:g.19606G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371486.4:c.1360G>T MANE Select ENSP00000360541.3:p.Glu454Ter
ENST00000635862.1:c.1360G>T ENSP00000490867.1:p.Glu454Ter
ENST00000635888.1:c.*1346G>T ENSP00000490042.1:n.*1346G>T
ENST00000636239.1:c.*1007G>T ENSP00000490066.1:n.*1007G>T
ENST00000636867.1:c.1360G>T ENSP00000489631.1:p.Glu454Ter
ENST00000636891.1:c.1360G>T ENSP00000490399.1:p.Glu454Ter
ENST00000636935.1:c.341-2230G>T ENSP00000489757.1:n.341-2230G>T
ENST00000637252.1:c.1360G>T ENSP00000490492.1:p.Glu454Ter
ENST00000637726.1:n.3560G>T
ENST00000638135.1:c.*1007G>T ENSP00000489756.1:n.*1007G>T
ENST00000371486.3:c.1360G>T ENSP00000360541.3:p.Glu454Ter
NM_000098.2:c.1360G>T NP_000089.1:p.Glu454Ter
XM_005270484.1:c.1360G>T XP_005270541.1:p.Glu454Ter
NM_001330589.1:c.1360G>T NP_001317518.1:p.Glu454Ter
NM_000098.3:c.1360G>T MANE Select NP_000089.1:p.Glu454Ter
NM_001330589.2:c.1360G>T NP_001317518.1:p.Glu454Ter
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