Canonical Allele Identifier: CA388740591

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110642520T>C , CM000675.2:g.110642520T>C	GRCh38
NC_000013.10:g.111294867T>C , CM000675.1:g.111294867T>C	GRCh37
NC_000013.9:g.110092868T>C	NCBI36
NG_042045.1:g.68661A>G
NG_042045.2:g.76082A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1418A>G MANE Select	NP_078813.1:p.Tyr473Cys
ENST00000257347.9:c.1418A>G MANE Select	ENSP00000257347.4:p.Tyr473Cys
NM_001352252.1:c.632A>G	NP_001339181.1:p.Tyr211Cys
NM_001352252.2:c.632A>G	NP_001339181.1:p.Tyr211Cys
NM_024537.2:c.1418A>G	NP_078813.1:p.Tyr473Cys
NM_024537.3:c.1418A>G	NP_078813.1:p.Tyr473Cys
NR_147941.1:n.1502A>G
NR_147942.1:n.1901A>G
NR_147942.2:n.1837A>G
ENST00000257347.8:c.1418A>G	ENSP00000257347.4:p.Tyr473Cys
ENST00000375781.9:n.2350A>G
ENST00000471986.2:n.108-23A>G
ENST00000480437.5:n.413A>G
ENST00000481787.6:n.852A>G
ENST00000487253.6:c.617A>G
ENST00000535516.5:n.1918A>G
ENST00000535615.5:n.702A>G
ENST00000537802.5:n.2830A>G
ENST00000540006.5:n.1083A>G
ENST00000541239.5:n.3114A>G
ENST00000542774.5:n.417A>G
XM_006719953.2:c.1079A>G	XP_006720016.1:p.Tyr360Cys
XM_006719953.3:c.1079A>G	XP_006720016.1:p.Tyr360Cys
XM_011521115.1:c.1079A>G	XP_011519417.1:p.Tyr360Cys
XM_011521116.1:c.1073A>G	XP_011519418.1:p.Tyr358Cys
XM_011521120.1:c.632A>G	XP_011519422.1:p.Tyr211Cys
XM_017020741.1:c.1079A>G	XP_016876230.1:p.Tyr360Cys
XM_024449409.1:c.632A>G	XP_024305177.1:p.Tyr211Cys
XR_001749664.2:n.2117A>G
XR_001749665.2:n.1999A>G
XR_002957472.1:n.2524A>G
XR_243047.2:n.1559A>G
XR_243047.3:n.1576A>G
XR_243048.3:n.1564A>G
XR_243048.4:n.1581A>G
XR_243049.3:n.1682A>G
XR_243049.4:n.1699A>G
XR_243051.2:n.1374A>G
XR_243051.3:n.1391A>G