Canonical Allele Identifier: CA859080

Gene: CPT2

Linked Data

• ClinVar Variation Id: 656858
• ClinVar RCV Id: RCV001532060 ; RCV000813365 ; RCV002538158
• dbSNP Id: rs751090469
• ExAC: 1:53676266 TGAG / T
• gnomAD v2: 1-53676266-TGAG-T
• gnomAD v3: 1-53210594-TGAG-T
• gnomAD v4: 1-53210594-TGAG-T
• MyVariant Identifiers: chr1:g.53676267_53676269del (hg19) ; chr1:g.53210595_53210597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210595_53210597del , CM000663.2:g.53210595_53210597del	GRCh38
NC_000001.10:g.53676267_53676269del , CM000663.1:g.53676267_53676269del	GRCh37
NC_000001.9:g.53448855_53448857del	NCBI36
NG_008035.1:g.19167_19169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.921_923del MANE Select	ENSP00000360541.3:p.Met307_Ser308delinsIle
ENST00000635862.1:c.921_923del	ENSP00000490867.1:p.Met307_Ser308delinsIle
ENST00000635888.1:c.*907_*909del	ENSP00000490042.1:n.*907_*909del
ENST00000636239.1:c.*568_*570del	ENSP00000490066.1:n.*568_*570del
ENST00000636867.1:c.921_923del	ENSP00000489631.1:p.Met307_Ser308delinsIle
ENST00000636891.1:c.921_923del	ENSP00000490399.1:p.Met307_Ser308delinsIle
ENST00000636935.1:c.341-2669_341-2667del	ENSP00000489757.1:n.341-2669_341-2667del
ENST00000637252.1:c.921_923del	ENSP00000490492.1:p.Met307_Ser308delinsIle
ENST00000637726.1:n.3121_3123del
ENST00000638135.1:c.*568_*570del	ENSP00000489756.1:n.*568_*570del
ENST00000371486.3:c.921_923del	ENSP00000360541.3:p.Met307_Ser308delinsIle
NM_000098.2:c.921_923del	NP_000089.1:p.Met307_Ser308delinsIle
XM_005270484.1:c.921_923del	XP_005270541.1:p.Met307_Ser308delinsIle
NM_001330589.1:c.921_923del	NP_001317518.1:p.Met307_Ser308delinsIle
NM_000098.3:c.921_923del MANE Select	NP_000089.1:p.Met307_Ser308delinsIle
NM_001330589.2:c.921_923del	NP_001317518.1:p.Met307_Ser308delinsIle