Canonical Allele Identifier: CA859096

Gene: CPT2

Linked Data

• ClinVar Variation Id: 774568
• ClinVar RCV Id: RCV000954566
• dbSNP Id: rs757247552
• ExAC: 1:53676321 C / G
• gnomAD v2: 1-53676321-C-G
• gnomAD v3: 1-53210649-C-G
• gnomAD v4: 1-53210649-C-G
• MyVariant Identifiers: chr1:g.53676321C>G (hg19) ; chr1:g.53210649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210649C>G , CM000663.2:g.53210649C>G	GRCh38
NC_000001.10:g.53676321C>G , CM000663.1:g.53676321C>G	GRCh37
NC_000001.9:g.53448909C>G	NCBI36
NG_008035.1:g.19221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.975C>G MANE Select	ENSP00000360541.3:p.Leu325=
ENST00000635862.1:c.975C>G	ENSP00000490867.1:p.Leu325=
ENST00000635888.1:c.*961C>G	ENSP00000490042.1:n.*961C>G
ENST00000636239.1:c.*622C>G	ENSP00000490066.1:n.*622C>G
ENST00000636867.1:c.975C>G	ENSP00000489631.1:p.Leu325=
ENST00000636891.1:c.975C>G	ENSP00000490399.1:p.Leu325=
ENST00000636935.1:c.341-2615C>G	ENSP00000489757.1:n.341-2615C>G
ENST00000637252.1:c.975C>G	ENSP00000490492.1:p.Leu325=
ENST00000637726.1:n.3175C>G
ENST00000638135.1:c.*622C>G	ENSP00000489756.1:n.*622C>G
ENST00000371486.3:c.975C>G	ENSP00000360541.3:p.Leu325=
NM_000098.2:c.975C>G	NP_000089.1:p.Leu325=
XM_005270484.1:c.975C>G	XP_005270541.1:p.Leu325=
NM_001330589.1:c.975C>G	NP_001317518.1:p.Leu325=
NM_000098.3:c.975C>G MANE Select	NP_000089.1:p.Leu325=
NM_001330589.2:c.975C>G	NP_001317518.1:p.Leu325=