Canonical Allele Identifier: CA2645706611
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs2100254559
gnomAD v4: 1-53196934-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196934T>C , CM000663.2:g.53196934T>C GRCh38
NC_000001.10:g.53662606T>C , CM000663.1:g.53662606T>C GRCh37
NC_000001.9:g.53435194T>C NCBI36
NG_008035.1:g.5506T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371486.4:c.-10T>C MANE Select ENSP00000360541.3:n.-10T>C
ENST00000468572.2:n.76T>C
ENST00000635862.1:c.-10T>C ENSP00000490867.1:n.-10T>C
ENST00000635888.1:c.-10T>C ENSP00000490042.1:n.-10T>C
ENST00000636239.1:c.-10T>C ENSP00000490066.1:n.-10T>C
ENST00000636867.1:c.-10T>C ENSP00000489631.1:n.-10T>C
ENST00000636891.1:c.-10T>C ENSP00000490399.1:n.-10T>C
ENST00000636935.1:c.-10T>C ENSP00000489757.1:n.-10T>C
ENST00000637252.1:c.-10T>C ENSP00000490492.1:n.-10T>C
ENST00000638135.1:c.-10T>C ENSP00000489756.1:n.-10T>C
ENST00000371486.3:c.-10T>C ENSP00000360541.3:n.-10T>C
ENST00000468572.1:n.76T>C
NM_000098.2:c.-10T>C NP_000089.1:n.-10T>C
XM_005270484.1:c.-10T>C XP_005270541.1:n.-10T>C
NM_001330589.1:c.-10T>C NP_001317518.1:n.-10T>C
NM_000098.3:c.-10T>C MANE Select NP_000089.1:n.-10T>C
NM_001330589.2:c.-10T>C NP_001317518.1:n.-10T>C