Canonical Allele Identifier: CA340393854
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1645416221
gnomAD v4: 1-53210503-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53210503C>G , CM000663.2:g.53210503C>G GRCh38
NC_000001.10:g.53676175C>G , CM000663.1:g.53676175C>G GRCh37
NC_000001.9:g.53448763C>G NCBI36
NG_008035.1:g.19075C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.829C>G MANE Select ENSP00000360541.3:p.Leu277Val
ENST00000635862.1:c.829C>G ENSP00000490867.1:p.Leu277Val
ENST00000635888.1:c.*815C>G ENSP00000490042.1:n.*815C>G
ENST00000636239.1:c.*476C>G ENSP00000490066.1:n.*476C>G
ENST00000636867.1:c.829C>G ENSP00000489631.1:p.Leu277Val
ENST00000636891.1:c.829C>G ENSP00000490399.1:p.Leu277Val
ENST00000636935.1:c.341-2761C>G ENSP00000489757.1:n.341-2761C>G
ENST00000637252.1:c.829C>G ENSP00000490492.1:p.Leu277Val
ENST00000637726.1:n.3029C>G
ENST00000638135.1:c.*476C>G ENSP00000489756.1:n.*476C>G
ENST00000371486.3:c.829C>G ENSP00000360541.3:p.Leu277Val
NM_000098.2:c.829C>G NP_000089.1:p.Leu277Val
XM_005270484.1:c.829C>G XP_005270541.1:p.Leu277Val
NM_001330589.1:c.829C>G NP_001317518.1:p.Leu277Val
NM_000098.3:c.829C>G MANE Select NP_000089.1:p.Leu277Val
NM_001330589.2:c.829C>G NP_001317518.1:p.Leu277Val