Canonical Allele Identifier: CA417874759

Gene: CPT2

Linked Data

• ClinVar Variation Id: 745469
• ClinVar RCV Id: RCV001434988
• dbSNP Id: rs1378193193
• gnomAD v2: 1-53675883-C-T
• gnomAD v4: 1-53210211-C-T
• MyVariant Identifiers: chr1:g.53675883C>T (hg19) ; chr1:g.53210211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210211C>T , CM000663.2:g.53210211C>T	GRCh38
NC_000001.10:g.53675883C>T , CM000663.1:g.53675883C>T	GRCh37
NC_000001.9:g.53448471C>T	NCBI36
NG_008035.1:g.18783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.537C>T MANE Select	ENSP00000360541.3:p.Asn179=
ENST00000635862.1:c.537C>T	ENSP00000490867.1:p.Asn179=
ENST00000635888.1:c.*523C>T	ENSP00000490042.1:n.*523C>T
ENST00000636239.1:c.*184C>T	ENSP00000490066.1:n.*184C>T
ENST00000636867.1:c.537C>T	ENSP00000489631.1:p.Asn179=
ENST00000636891.1:c.537C>T	ENSP00000490399.1:p.Asn179=
ENST00000636935.1:c.341-3053C>T	ENSP00000489757.1:n.341-3053C>T
ENST00000637252.1:c.537C>T	ENSP00000490492.1:p.Asn179=
ENST00000637726.1:n.2737C>T
ENST00000638135.1:c.*184C>T	ENSP00000489756.1:n.*184C>T
ENST00000371486.3:c.537C>T	ENSP00000360541.3:p.Asn179=
NM_000098.2:c.537C>T	NP_000089.1:p.Asn179=
XM_005270484.1:c.537C>T	XP_005270541.1:p.Asn179=
NM_001330589.1:c.537C>T	NP_001317518.1:p.Asn179=
NM_000098.3:c.537C>T MANE Select	NP_000089.1:p.Asn179=
NM_001330589.2:c.537C>T	NP_001317518.1:p.Asn179=