Canonical Allele Identifier: CA22638038

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1352433
• ClinVar RCV Id: RCV002047600
• dbSNP Id: rs1016498296
• gnomAD v2: 1-53675965-G-A
• gnomAD v3: 1-53210293-G-A
• gnomAD v4: 1-53210293-G-A
• MyVariant Identifiers: chr1:g.53675965G>A (hg19) ; chr1:g.53210293G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210293G>A , CM000663.2:g.53210293G>A	GRCh38
NC_000001.10:g.53675965G>A , CM000663.1:g.53675965G>A	GRCh37
NC_000001.9:g.53448553G>A	NCBI36
NG_008035.1:g.18865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.619G>A MANE Select	ENSP00000360541.3:p.Val207Ile
ENST00000635862.1:c.619G>A	ENSP00000490867.1:p.Val207Ile
ENST00000635888.1:c.*605G>A	ENSP00000490042.1:n.*605G>A
ENST00000636239.1:c.*266G>A	ENSP00000490066.1:n.*266G>A
ENST00000636867.1:c.619G>A	ENSP00000489631.1:p.Val207Ile
ENST00000636891.1:c.619G>A	ENSP00000490399.1:p.Val207Ile
ENST00000636935.1:c.341-2971G>A	ENSP00000489757.1:n.341-2971G>A
ENST00000637252.1:c.619G>A	ENSP00000490492.1:p.Val207Ile
ENST00000637726.1:n.2819G>A
ENST00000638135.1:c.*266G>A	ENSP00000489756.1:n.*266G>A
ENST00000371486.3:c.619G>A	ENSP00000360541.3:p.Val207Ile
NM_000098.2:c.619G>A	NP_000089.1:p.Val207Ile
XM_005270484.1:c.619G>A	XP_005270541.1:p.Val207Ile
NM_001330589.1:c.619G>A	NP_001317518.1:p.Val207Ile
NM_000098.3:c.619G>A MANE Select	NP_000089.1:p.Val207Ile
NM_001330589.2:c.619G>A	NP_001317518.1:p.Val207Ile