Canonical Allele Identifier: CA859147
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs771811692
gnomAD v2: 1-53676569-C-G
gnomAD v4: 1-53210897-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210897C>G , CM000663.2:g.53210897C>G GRCh38
NC_000001.10:g.53676569C>G , CM000663.1:g.53676569C>G GRCh37
NC_000001.9:g.53449157C>G NCBI36
NG_008035.1:g.19469C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1223C>G MANE Select ENSP00000360541.3:p.Ser408Cys
ENST00000635862.1:c.1223C>G ENSP00000490867.1:p.Ser408Cys
ENST00000635888.1:c.*1209C>G ENSP00000490042.1:n.*1209C>G
ENST00000636239.1:c.*870C>G ENSP00000490066.1:n.*870C>G
ENST00000636867.1:c.1223C>G ENSP00000489631.1:p.Ser408Cys
ENST00000636891.1:c.1223C>G ENSP00000490399.1:p.Ser408Cys
ENST00000636935.1:c.341-2367C>G ENSP00000489757.1:n.341-2367C>G
ENST00000637252.1:c.1223C>G ENSP00000490492.1:p.Ser408Cys
ENST00000637726.1:n.3423C>G
ENST00000638135.1:c.*870C>G ENSP00000489756.1:n.*870C>G
ENST00000371486.3:c.1223C>G ENSP00000360541.3:p.Ser408Cys
NM_000098.2:c.1223C>G NP_000089.1:p.Ser408Cys
XM_005270484.1:c.1223C>G XP_005270541.1:p.Ser408Cys
NM_001330589.1:c.1223C>G NP_001317518.1:p.Ser408Cys
NM_000098.3:c.1223C>G MANE Select NP_000089.1:p.Ser408Cys
NM_001330589.2:c.1223C>G NP_001317518.1:p.Ser408Cys