Canonical Allele Identifier: CA859145

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1172859
• ClinVar RCV Id: RCV001526930
• dbSNP Id: rs752373512
• ExAC: 1:53676566 ACT / A
• gnomAD v2: 1-53676566-ACT-A
• gnomAD v4: 1-53210894-ACT-A
• MyVariant Identifiers: chr1:g.53676567_53676568del (hg19) ; chr1:g.53210895_53210896del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210897_53210898del , CM000663.2:g.53210897_53210898del	GRCh38
NC_000001.10:g.53676569_53676570del , CM000663.1:g.53676569_53676570del	GRCh37
NC_000001.9:g.53449157_53449158del	NCBI36
NG_008035.1:g.19469_19470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1223_1224del MANE Select	ENSP00000360541.3:p.Ser408TyrfsTer13
ENST00000635862.1:c.1223_1224del	ENSP00000490867.1:p.Ser408TyrfsTer13
ENST00000635888.1:c.*1209_*1210del	ENSP00000490042.1:n.*1209_*1210del
ENST00000636239.1:c.*870_*871del	ENSP00000490066.1:n.*870_*871del
ENST00000636867.1:c.1223_1224del	ENSP00000489631.1:p.Ser408TyrfsTer13
ENST00000636891.1:c.1223_1224del	ENSP00000490399.1:p.Ser408TyrfsTer13
ENST00000636935.1:c.341-2367_341-2366del	ENSP00000489757.1:n.341-2367_341-2366del
ENST00000637252.1:c.1223_1224del	ENSP00000490492.1:p.Ser408TyrfsTer13
ENST00000637726.1:n.3423_3424del
ENST00000638135.1:c.*870_*871del	ENSP00000489756.1:n.*870_*871del
ENST00000371486.3:c.1223_1224del	ENSP00000360541.3:p.Ser408TyrfsTer13
NM_000098.2:c.1223_1224del	NP_000089.1:p.Ser408TyrfsTer13
XM_005270484.1:c.1223_1224del	XP_005270541.1:p.Ser408TyrfsTer13
NM_001330589.1:c.1223_1224del	NP_001317518.1:p.Ser408TyrfsTer13
NM_000098.3:c.1223_1224del MANE Select	NP_000089.1:p.Ser408TyrfsTer13
NM_001330589.2:c.1223_1224del	NP_001317518.1:p.Ser408TyrfsTer13