Canonical Allele Identifier: CA1167208833
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1645322741
gnomAD v4: 1-53196776-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196776C>T , CM000663.2:g.53196776C>T GRCh38
NC_000001.10:g.53662448C>T , CM000663.1:g.53662448C>T GRCh37
NC_000001.9:g.53435036C>T NCBI36
NG_008035.1:g.5348C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-168C>T ENSP00000360541.3:n.-168C>T
NM_000098.2:c.-168C>T NP_000089.1:n.-168C>T
XM_005270484.1:c.-168C>T XP_005270541.1:n.-168C>T
NM_001330589.1:c.-168C>T NP_001317518.1:n.-168C>T