Canonical Allele Identifier: CA7051650

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110642490A>C , CM000675.2:g.110642490A>C	GRCh38
NC_000013.10:g.111294837A>C , CM000675.1:g.111294837A>C	GRCh37
NC_000013.9:g.110092838A>C	NCBI36
NG_042045.1:g.68691T>G
NG_042045.2:g.76112T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1448T>G MANE Select	ENSP00000257347.4:p.Leu483Trp
ENST00000257347.8:c.1448T>G	ENSP00000257347.4:p.Leu483Trp
ENST00000375781.9:n.2380T>G
ENST00000471986.2:n.115T>G
ENST00000480437.5:n.443T>G
ENST00000481787.6:n.882T>G
ENST00000487253.6:c.647T>G
ENST00000535516.5:n.1948T>G
ENST00000537802.5:n.2860T>G
ENST00000540006.5:n.1113T>G
ENST00000541239.5:n.3144T>G
ENST00000542774.5:n.447T>G
NM_024537.2:c.1448T>G	NP_078813.1:p.Leu483Trp
NM_024537.3:c.1448T>G	NP_078813.1:p.Leu483Trp
XM_006719953.2:c.1109T>G	XP_006720016.1:p.Leu370Trp
XM_011521115.1:c.1109T>G	XP_011519417.1:p.Leu370Trp
XM_011521116.1:c.1103T>G	XP_011519418.1:p.Leu368Trp
XM_011521120.1:c.662T>G	XP_011519422.1:p.Leu221Trp
XR_243047.2:n.1589T>G
XR_243048.3:n.1594T>G
XR_243049.3:n.1712T>G
XR_243051.2:n.1404T>G
NM_001352252.1:c.662T>G	NP_001339181.1:p.Leu221Trp
NR_147941.1:n.1532T>G
NR_147942.1:n.1931T>G
XM_006719953.3:c.1109T>G	XP_006720016.1:p.Leu370Trp
XM_017020741.1:c.1109T>G	XP_016876230.1:p.Leu370Trp
XM_024449409.1:c.662T>G	XP_024305177.1:p.Leu221Trp
XR_001749664.2:n.2147T>G
XR_001749665.2:n.2029T>G
XR_002957472.1:n.2554T>G
XR_243047.3:n.1606T>G
XR_243048.4:n.1611T>G
XR_243049.4:n.1729T>G
XR_243051.3:n.1421T>G
NM_024537.4:c.1448T>G MANE Select	NP_078813.1:p.Leu483Trp
NR_147942.2:n.1867T>G
NM_001352252.2:c.662T>G	NP_001339181.1:p.Leu221Trp