Canonical Allele Identifier: CA13880760
Gene: CARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110647557G>A , CM000675.2:g.110647557G>A GRCh38
NC_000013.10:g.111299904G>A , CM000675.1:g.111299904G>A GRCh37
NC_000013.9:g.110097905G>A NCBI36
NG_042045.1:g.63624C>T
NG_042045.2:g.71045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000257347.9:c.1055-318C>T MANE Select ENSP00000257347.4:n.1055-318C>T
ENST00000257347.8:c.1055-318C>T ENSP00000257347.4:n.1055-318C>T
ENST00000375781.9:n.326-318C>T
ENST00000481787.6:n.489-318C>T
ENST00000487253.6:c.136-318C>T
ENST00000535398.5:n.1247-318C>T
ENST00000535516.5:n.545-318C>T
ENST00000535615.5:n.339-318C>T
ENST00000537386.1:n.179-318C>T
ENST00000537404.1:n.175-318C>T
ENST00000537802.5:n.1339-318C>T
ENST00000540006.5:n.479-318C>T
ENST00000541362.5:n.279-318C>T
ENST00000543487.5:n.571-318C>T
ENST00000545506.5:n.400-318C>T
NM_024537.2:c.1055-318C>T NP_078813.1:n.1055-318C>T
NM_024537.3:c.1055-318C>T NP_078813.1:n.1055-318C>T
XM_006719953.2:c.716-318C>T XP_006720016.1:n.716-318C>T
XM_011521114.1:c.1055-318C>T XP_011519416.1:n.1055-318C>T
XM_011521115.1:c.716-318C>T XP_011519417.1:n.716-318C>T
XM_011521116.1:c.710-318C>T XP_011519418.1:n.710-318C>T
XM_011521120.1:c.269-318C>T XP_011519422.1:n.269-318C>T
XR_243047.2:n.1078-318C>T
XR_243048.3:n.1078-318C>T
XR_243049.3:n.1078-318C>T
XR_243051.2:n.1011-318C>T
NM_001352252.1:c.269-318C>T NP_001339181.1:n.269-318C>T
NR_147941.1:n.1026-318C>T
NR_147942.1:n.1300-318C>T
XM_006719953.3:c.716-318C>T XP_006720016.1:n.716-318C>T
XM_017020741.1:c.716-318C>T XP_016876230.1:n.716-318C>T
XM_017020742.2:c.988-318C>T XP_016876231.1:n.988-318C>T
XM_024449409.1:c.269-318C>T XP_024305177.1:n.269-318C>T
XR_001749664.2:n.1095-318C>T
XR_001749665.2:n.1095-318C>T
XR_001749666.2:n.1095-318C>T
XR_001749667.2:n.1095-318C>T
XR_001749668.2:n.1028-318C>T
XR_002957472.1:n.1028-318C>T
XR_243047.3:n.1095-318C>T
XR_243048.4:n.1095-318C>T
XR_243049.4:n.1095-318C>T
XR_243051.3:n.1028-318C>T
NM_024537.4:c.1055-318C>T MANE Select NP_078813.1:n.1055-318C>T
NR_147942.2:n.1236-318C>T
NM_001352252.2:c.269-318C>T NP_001339181.1:n.269-318C>T