Canonical Allele Identifier: CA736884402

Gene: CPT2

Linked Data

• dbSNP Id: rs1302796199
• MyVariant Identifiers: chr1:g.53676174_53676175del (hg19) ; chr1:g.53210502_53210503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210506_53210507del , CM000663.2:g.53210506_53210507del	GRCh38
NC_000001.10:g.53676178_53676179del , CM000663.1:g.53676178_53676179del	GRCh37
NC_000001.9:g.53448766_53448767del	NCBI36
NG_008035.1:g.19078_19079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.832_833del MANE Select	ENSP00000360541.3:p.Ser278ArgfsTer16
ENST00000635862.1:c.832_833del	ENSP00000490867.1:p.Ser278ArgfsTer16
ENST00000635888.1:c.*818_*819del	ENSP00000490042.1:n.*818_*819del
ENST00000636239.1:c.*479_*480del	ENSP00000490066.1:n.*479_*480del
ENST00000636867.1:c.832_833del	ENSP00000489631.1:p.Ser278ArgfsTer16
ENST00000636891.1:c.832_833del	ENSP00000490399.1:p.Ser278ArgfsTer16
ENST00000636935.1:c.341-2758_341-2757del	ENSP00000489757.1:n.341-2758_341-2757del
ENST00000637252.1:c.832_833del	ENSP00000490492.1:p.Ser278ArgfsTer16
ENST00000637726.1:n.3032_3033del
ENST00000638135.1:c.*479_*480del	ENSP00000489756.1:n.*479_*480del
ENST00000371486.3:c.832_833del	ENSP00000360541.3:p.Ser278ArgfsTer16
NM_000098.2:c.832_833del	NP_000089.1:p.Ser278ArgfsTer16
XM_005270484.1:c.832_833del	XP_005270541.1:p.Ser278ArgfsTer16
NM_001330589.1:c.832_833del	NP_001317518.1:p.Ser278ArgfsTer16
NM_000098.3:c.832_833del MANE Select	NP_000089.1:p.Ser278ArgfsTer16
NM_001330589.2:c.832_833del	NP_001317518.1:p.Ser278ArgfsTer16