Canonical Allele Identifier: CA1001798244
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1331103111
gnomAD v3: 1-53196781-G-T
gnomAD v4: 1-53196781-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196781G>T , CM000663.2:g.53196781G>T GRCh38
NC_000001.10:g.53662453G>T , CM000663.1:g.53662453G>T GRCh37
NC_000001.9:g.53435041G>T NCBI36
NG_008035.1:g.5353G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-163G>T ENSP00000360541.3:n.-163G>T
NM_000098.2:c.-163G>T NP_000089.1:n.-163G>T
XM_005270484.1:c.-163G>T XP_005270541.1:n.-163G>T
NM_001330589.1:c.-163G>T NP_001317518.1:n.-163G>T
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