Canonical Allele Identifier: CA7052308
Community Standard Title: NM_024537.4(CARS2):c.323T>G (p.Phe108Cys)
Gene: CARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110701508A>C , CM000675.2:g.110701508A>C GRCh38
NC_000013.10:g.111353855A>C , CM000675.1:g.111353855A>C GRCh37
NC_000013.9:g.110151856A>C NCBI36
NG_042045.1:g.9673T>G
NG_042045.2:g.17094T>G

Transcript Alleles

HGVS Amino-acid Change
NM_024537.4:c.323T>G MANE Select NP_078813.1:p.Phe108Cys
ENST00000257347.9:c.323T>G MANE Select ENSP00000257347.4:p.Phe108Cys
NM_001352252.1:c.-677T>G NP_001339181.1:n.-677T>G
NM_001352252.2:c.-677T>G NP_001339181.1:n.-677T>G
NM_001352253.1:c.323T>G NP_001339182.1:p.Phe108Cys
NM_001352253.2:c.323T>G NP_001339182.1:p.Phe108Cys
NM_001352253.3:c.323T>G NP_001339182.1:p.Phe108Cys
NM_024537.2:c.323T>G NP_078813.1:p.Phe108Cys
NM_024537.3:c.323T>G NP_078813.1:p.Phe108Cys
NR_147941.1:n.244T>G
NR_147942.1:n.410T>G
NR_147942.2:n.346T>G
ENST00000257347.8:c.323T>G ENSP00000257347.4:p.Phe108Cys
ENST00000465145.5:n.198T>G
ENST00000535398.5:n.515T>G
ENST00000537394.5:c.323T>G ENSP00000437962.1:p.Phe108Cys
ENST00000537412.5:n.564T>G
ENST00000539269.5:c.283T>G
ENST00000540629.5:n.354T>G
ENST00000540785.1:n.144T>G
ENST00000541443.5:n.234T>G
ENST00000542126.5:n.319T>G
ENST00000542709.5:c.296T>G ENSP00000444655.1:p.Phe99Cys
ENST00000544488.5:n.386+11629T>G
XM_006719953.2:c.-17T>G XP_006720016.1:n.-17T>G
XM_006719953.3:c.-17T>G XP_006720016.1:n.-17T>G
XM_011521114.1:c.323T>G XP_011519416.1:p.Phe108Cys
XM_011521115.1:c.-17T>G XP_011519417.1:n.-17T>G
XM_011521116.1:c.-73T>G XP_011519418.1:n.-73T>G
XM_011521117.1:c.323T>G XP_011519419.1:p.Phe108Cys
XM_011521117.3:c.323T>G XP_011519419.1:p.Phe108Cys
XM_011521118.1:c.323T>G XP_011519420.1:p.Phe108Cys
XM_011521118.3:c.323T>G XP_011519420.1:p.Phe108Cys
XM_011521119.1:c.323T>G XP_011519421.1:p.Phe108Cys
XM_011521120.1:c.-286T>G XP_011519422.1:n.-286T>G
XM_017020741.1:c.-17T>G XP_016876230.1:n.-17T>G
XM_017020742.2:c.323T>G XP_016876231.1:p.Phe108Cys
XM_024449409.1:c.-286T>G XP_024305177.1:n.-286T>G
XR_001749664.2:n.363T>G
XR_001749665.2:n.363T>G
XR_001749666.2:n.363T>G
XR_001749667.2:n.363T>G
XR_001749668.2:n.363T>G
XR_002957472.1:n.363T>G
XR_243047.2:n.346T>G
XR_243047.3:n.363T>G
XR_243048.3:n.346T>G
XR_243048.4:n.363T>G
XR_243049.3:n.346T>G
XR_243049.4:n.363T>G
XR_243051.2:n.346T>G
XR_243051.3:n.363T>G