Canonical Allele Identifier: CA254616
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8968
dbSNP Id: rs121918528
gnomAD v2: 1-53675705-A-G
gnomAD v3: 1-53210033-A-G
gnomAD v4: 1-53210033-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210033A>G , CM000663.2:g.53210033A>G GRCh38
NC_000001.10:g.53675705A>G , CM000663.1:g.53675705A>G GRCh37
NC_000001.9:g.53448293A>G NCBI36
NG_008035.1:g.18605A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371486.4:c.359A>G MANE Select ENSP00000360541.3:p.Tyr120Cys
ENST00000635862.1:c.359A>G ENSP00000490867.1:p.Tyr120Cys
ENST00000635888.1:c.*345A>G ENSP00000490042.1:n.*345A>G
ENST00000636239.1:c.*6A>G ENSP00000490066.1:n.*6A>G
ENST00000636867.1:c.359A>G ENSP00000489631.1:p.Tyr120Cys
ENST00000636891.1:c.359A>G ENSP00000490399.1:p.Tyr120Cys
ENST00000636935.1:c.341-3231A>G ENSP00000489757.1:n.341-3231A>G
ENST00000637252.1:c.359A>G ENSP00000490492.1:p.Tyr120Cys
ENST00000637726.1:n.2559A>G
ENST00000638135.1:c.*6A>G ENSP00000489756.1:n.*6A>G
ENST00000371486.3:c.359A>G ENSP00000360541.3:p.Tyr120Cys
NM_000098.2:c.359A>G NP_000089.1:p.Tyr120Cys
XM_005270484.1:c.359A>G XP_005270541.1:p.Tyr120Cys
NM_001330589.1:c.359A>G NP_001317518.1:p.Tyr120Cys
NM_000098.3:c.359A>G MANE Select NP_000089.1:p.Tyr120Cys
NM_001330589.2:c.359A>G NP_001317518.1:p.Tyr120Cys