Canonical Allele Identifier: CA16040769
Gene: CPT2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371764
dbSNP Id: rs1057517517

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53211288C>A , CM000663.2:g.53211288C>A GRCh38
NC_000001.10:g.53676960C>A , CM000663.1:g.53676960C>A GRCh37
NC_000001.9:g.53449548C>A NCBI36
NG_008035.1:g.19860C>A

Transcript Alleles

HGVS Amino-acid change
NM_000098.2:c.1614C>A VV NP_000089.1:p.Tyr538Ter
XM_005270484.1:c.1576+38C>A XP_005270541.1:p.=
NM_001330589.1:c.1576+38C>A VV NP_001317518.1:p.=
NM_000098.3:c.1614C>A VV MANE Preferred NP_000089.1:p.Tyr538Ter
ENST00000371486.3:c.1614C>A ENSP00000360541.3:p.Tyr538Ter