Canonical Allele Identifier: CA522907682

Gene: CPT2

Linked Data

• dbSNP Id: rs1313518102
• gnomAD v2: 1-53662370-G-C
• MyVariant Identifiers: chr1:g.53662370G>C (hg19) ; chr1:g.53196698G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196698G>C , CM000663.2:g.53196698G>C	GRCh38
NC_000001.10:g.53662370G>C , CM000663.1:g.53662370G>C	GRCh37
NC_000001.9:g.53434958G>C	NCBI36
NG_008035.1:g.5270G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.3:c.-246G>C	ENSP00000360541.3:n.-246G>C
NM_000098.2:c.-246G>C	NP_000089.1:n.-246G>C
NM_001330589.1:c.-246G>C	NP_001317518.1:n.-246G>C