Canonical Allele Identifier: CA312436

Gene: CPT2

Linked Data

• ClinVar Variation Id: 203666
• ClinVar RCV Id: RCV000440638 ; RCV001085585 ; RCV001804920 ; RCV003947559
• dbSNP Id: rs148035648
• ExAC: 1:53675699 A / G
• gnomAD v2: 1-53675699-A-G
• gnomAD v3: 1-53210027-A-G
• gnomAD v4: 1-53210027-A-G
• MyVariant Identifiers: chr1:g.53675699A>G (hg19) ; chr1:g.53210027A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210027A>G , CM000663.2:g.53210027A>G	GRCh38
NC_000001.10:g.53675699A>G , CM000663.1:g.53675699A>G	GRCh37
NC_000001.9:g.53448287A>G	NCBI36
NG_008035.1:g.18599A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.353A>G MANE Select	ENSP00000360541.3:p.Asp118Gly
ENST00000635862.1:c.353A>G	ENSP00000490867.1:p.Asp118Gly
ENST00000635888.1:c.*339A>G	ENSP00000490042.1:n.*339A>G
ENST00000636239.1:c.246A>G	ENSP00000490066.1:p.Ter82Trp
ENST00000636867.1:c.353A>G	ENSP00000489631.1:p.Asp118Gly
ENST00000636891.1:c.353A>G	ENSP00000490399.1:p.Asp118Gly
ENST00000636935.1:c.341-3237A>G	ENSP00000489757.1:n.341-3237A>G
ENST00000637252.1:c.353A>G	ENSP00000490492.1:p.Asp118Gly
ENST00000637726.1:n.2553A>G
ENST00000638135.1:c.165A>G	ENSP00000489756.1:p.Ter55Trp
ENST00000371486.3:c.353A>G	ENSP00000360541.3:p.Asp118Gly
NM_000098.2:c.353A>G	NP_000089.1:p.Asp118Gly
XM_005270484.1:c.353A>G	XP_005270541.1:p.Asp118Gly
NM_001330589.1:c.353A>G	NP_001317518.1:p.Asp118Gly
NM_000098.3:c.353A>G MANE Select	NP_000089.1:p.Asp118Gly
NM_001330589.2:c.353A>G	NP_001317518.1:p.Asp118Gly