Canonical Allele Identifier: CA736875753
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1213556205
gnomAD v3: 1-53196653-G-GT
gnomAD v4: 1-53196653-G-GT
MyVariant Identifiers: chr1:g.53662325_53662326insT (hg19) chr1:g.53196653_53196654insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196656dup , CM000663.2:g.53196656dup GRCh38
NC_000001.10:g.53662328dup , CM000663.1:g.53662328dup GRCh37
NC_000001.9:g.53434916dup NCBI36
NG_008035.1:g.5228dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-288dup ENSP00000360541.3:n.-288dup
NM_000098.2:c.-288dup NP_000089.1:n.-288dup
NM_001330589.1:c.-288dup NP_001317518.1:n.-288dup
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