Canonical Allele Identifier: CA859229

Gene: CPT2

Linked Data

• dbSNP Id: rs777066875
• ExAC: 1:53676872 C / CAA
• gnomAD v2: 1-53676872-C-CAA
• gnomAD v4: 1-53211200-C-CAA
• MyVariant Identifiers: chr1:g.53676872_53676873insAA (hg19) ; chr1:g.53211200_53211201insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211202_53211203dup , CM000663.2:g.53211202_53211203dup	GRCh38
NC_000001.10:g.53676874_53676875dup , CM000663.1:g.53676874_53676875dup	GRCh37
NC_000001.9:g.53449462_53449463dup	NCBI36
NG_008035.1:g.19774_19775dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1528_1529dup MANE Select	ENSP00000360541.3:p.Cys512GlyfsTer21
ENST00000635862.1:c.1528_1529dup	ENSP00000490867.1:p.Cys512GlyfsTer?
ENST00000635888.1:c.*1514_*1515dup	ENSP00000490042.1:n.*1514_*1515dup
ENST00000636239.1:c.*1175_*1176dup	ENSP00000490066.1:n.*1175_*1176dup
ENST00000636867.1:c.1528_1529dup	ENSP00000489631.1:p.Cys512GlyfsTer?
ENST00000636891.1:c.1528_1529dup	ENSP00000490399.1:p.Cys512GlyfsTer21
ENST00000636935.1:c.341-2062_341-2061dup	ENSP00000489757.1:n.341-2062_341-2061dup
ENST00000637252.1:c.1528_1529dup	ENSP00000490492.1:p.Cys512GlyfsTer21
ENST00000637726.1:n.3728_3729dup
ENST00000638135.1:c.*1175_*1176dup	ENSP00000489756.1:n.*1175_*1176dup
ENST00000371486.3:c.1528_1529dup	ENSP00000360541.3:p.Cys512GlyfsTer21
NM_000098.2:c.1528_1529dup	NP_000089.1:p.Cys512GlyfsTer21
XM_005270484.1:c.1528_1529dup	XP_005270541.1:p.Cys512GlyfsTer?
NM_001330589.1:c.1528_1529dup	NP_001317518.1:p.Cys512GlyfsTer?
NM_000098.3:c.1528_1529dup MANE Select	NP_000089.1:p.Cys512GlyfsTer21
NM_001330589.2:c.1528_1529dup	NP_001317518.1:p.Cys512GlyfsTer?