Canonical Allele Identifier: CA484981938

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110642446G>T , CM000675.2:g.110642446G>T	GRCh38
NC_000013.10:g.111294793G>T , CM000675.1:g.111294793G>T	GRCh37
NC_000013.9:g.110092794G>T	NCBI36
NG_042045.1:g.68735C>A
NG_042045.2:g.76156C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1492C>A MANE Select	NP_078813.1:p.Arg498=
ENST00000257347.9:c.1492C>A MANE Select	ENSP00000257347.4:p.Arg498=
NM_001352252.1:c.706C>A	NP_001339181.1:p.Arg236=
NM_001352252.2:c.706C>A	NP_001339181.1:p.Arg236=
NM_024537.2:c.1492C>A	NP_078813.1:p.Arg498=
NM_024537.3:c.1492C>A	NP_078813.1:p.Arg498=
NR_147941.1:n.1576C>A
NR_147942.1:n.1975C>A
NR_147942.2:n.1911C>A
ENST00000257347.8:c.1492C>A	ENSP00000257347.4:p.Arg498=
ENST00000375781.9:n.2424C>A
ENST00000471986.2:n.159C>A
ENST00000481787.6:n.926C>A
ENST00000487253.6:c.691C>A
ENST00000535516.5:n.1992C>A
ENST00000537802.5:n.2904C>A
ENST00000540006.5:n.1157C>A
ENST00000541239.5:n.3188C>A
ENST00000542774.5:n.491C>A
XM_006719953.2:c.1153C>A	XP_006720016.1:p.Arg385=
XM_006719953.3:c.1153C>A	XP_006720016.1:p.Arg385=
XM_011521115.1:c.1153C>A	XP_011519417.1:p.Arg385=
XM_011521116.1:c.1147C>A	XP_011519418.1:p.Arg383=
XM_011521120.1:c.706C>A	XP_011519422.1:p.Arg236=
XM_017020741.1:c.1153C>A	XP_016876230.1:p.Arg385=
XM_024449409.1:c.706C>A	XP_024305177.1:p.Arg236=
XR_001749664.2:n.2191C>A
XR_002957472.1:n.2598C>A
XR_243047.2:n.1633C>A
XR_243047.3:n.1650C>A
XR_243048.3:n.1638C>A
XR_243048.4:n.1655C>A
XR_243049.3:n.1756C>A
XR_243049.4:n.1773C>A
XR_243051.2:n.1448C>A
XR_243051.3:n.1465C>A