Canonical Allele Identifier: CA22625957

Gene: CPT2

Linked Data

• dbSNP Id: rs746815144
• gnomAD v2: 1-53662258-C-CT
• gnomAD v3: 1-53196586-C-CT
• gnomAD v4: 1-53196586-C-CT
• MyVariant Identifiers: chr1:g.53662259_53662260insT (hg19) ; chr1:g.53662258_53662259insT (hg19) ; chr1:g.53196587_53196588insT (hg38) ; chr1:g.53196586_53196587insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196596dup , CM000663.2:g.53196596dup	GRCh38
NC_000001.10:g.53662268dup , CM000663.1:g.53662268dup	GRCh37
NC_000001.9:g.53434856dup	NCBI36
NG_008035.1:g.5168dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.3:c.-348dup	ENSP00000360541.3:n.-348dup
NM_000098.2:c.-348dup	NP_000089.1:n.-348dup
NM_001330589.1:c.-348dup	NP_001317518.1:n.-348dup