Canonical Allele Identifier: CA484816816
Community Standard Title: NM_024537.4(CARS2):c.1059C>A (p.Ile353=)
Gene: CARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110647235G>T , CM000675.2:g.110647235G>T GRCh38
NC_000013.10:g.111299582G>T , CM000675.1:g.111299582G>T GRCh37
NC_000013.9:g.110097583G>T NCBI36
NG_042045.1:g.63946C>A
NG_042045.2:g.71367C>A

Transcript Alleles

HGVS Amino-acid Change
NM_024537.4:c.1059C>A MANE Select NP_078813.1:p.Ile353=
ENST00000257347.9:c.1059C>A MANE Select ENSP00000257347.4:p.Ile353=
NM_001352252.1:c.273C>A NP_001339181.1:p.Ile91=
NM_001352252.2:c.273C>A NP_001339181.1:p.Ile91=
NM_024537.2:c.1059C>A NP_078813.1:p.Ile353=
NM_024537.3:c.1059C>A NP_078813.1:p.Ile353=
NR_147941.1:n.1030C>A
NR_147942.1:n.1304C>A
NR_147942.2:n.1240C>A
ENST00000257347.8:c.1059C>A ENSP00000257347.4:p.Ile353=
ENST00000375781.9:n.330C>A
ENST00000481787.6:n.493C>A
ENST00000487253.6:c.140C>A
ENST00000535398.5:n.1251C>A
ENST00000535516.5:n.549C>A
ENST00000535615.5:n.343C>A
ENST00000537386.1:n.183C>A
ENST00000537404.1:n.179C>A
ENST00000537802.5:n.1343C>A
ENST00000540006.5:n.483C>A
ENST00000541362.5:n.283C>A
ENST00000543487.5:n.575C>A
ENST00000545506.5:n.404C>A
XM_006719953.2:c.720C>A XP_006720016.1:p.Ile240=
XM_006719953.3:c.720C>A XP_006720016.1:p.Ile240=
XM_011521114.1:c.1059C>A XP_011519416.1:p.Ile353=
XM_011521115.1:c.720C>A XP_011519417.1:p.Ile240=
XM_011521116.1:c.714C>A XP_011519418.1:p.Ile238=
XM_011521120.1:c.273C>A XP_011519422.1:p.Ile91=
XM_017020741.1:c.720C>A XP_016876230.1:p.Ile240=
XM_017020742.2:c.992C>A XP_016876231.1:p.Ser331Ter
XM_024449409.1:c.273C>A XP_024305177.1:p.Ile91=
XR_001749664.2:n.1099C>A
XR_001749665.2:n.1099C>A
XR_001749666.2:n.1099C>A
XR_001749667.2:n.1099C>A
XR_001749668.2:n.1032C>A
XR_002957472.1:n.1032C>A
XR_243047.2:n.1082C>A
XR_243047.3:n.1099C>A
XR_243048.3:n.1082C>A
XR_243048.4:n.1099C>A
XR_243049.3:n.1082C>A
XR_243049.4:n.1099C>A
XR_243051.2:n.1015C>A
XR_243051.3:n.1032C>A