Canonical Allele Identifier: CA7051908

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110647182C>T , CM000675.2:g.110647182C>T	GRCh38
NC_000013.10:g.111299529C>T , CM000675.1:g.111299529C>T	GRCh37
NC_000013.9:g.110097530C>T	NCBI36
NG_042045.1:g.63999G>A
NG_042045.2:g.71420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1112G>A MANE Select	ENSP00000257347.4:p.Gly371Asp
ENST00000257347.8:c.1112G>A	ENSP00000257347.4:p.Gly371Asp
ENST00000375781.9:n.383G>A
ENST00000481787.6:n.546G>A
ENST00000487253.6:c.193G>A
ENST00000535398.5:n.1304G>A
ENST00000535516.5:n.602G>A
ENST00000535615.5:n.396G>A
ENST00000537386.1:n.236G>A
ENST00000537404.1:n.232G>A
ENST00000537802.5:n.1396G>A
ENST00000540006.5:n.536G>A
ENST00000541362.5:n.336G>A
ENST00000543487.5:n.628G>A
ENST00000545506.5:n.457G>A
NM_024537.2:c.1112G>A	NP_078813.1:p.Gly371Asp
NM_024537.3:c.1112G>A	NP_078813.1:p.Gly371Asp
XM_006719953.2:c.773G>A	XP_006720016.1:p.Gly258Asp
XM_011521114.1:c.1112G>A	XP_011519416.1:p.Gly371Asp
XM_011521115.1:c.773G>A	XP_011519417.1:p.Gly258Asp
XM_011521116.1:c.767G>A	XP_011519418.1:p.Gly256Asp
XM_011521120.1:c.326G>A	XP_011519422.1:p.Gly109Asp
XR_243047.2:n.1135G>A
XR_243048.3:n.1135G>A
XR_243049.3:n.1135G>A
XR_243051.2:n.1068G>A
NM_001352252.1:c.326G>A	NP_001339181.1:p.Gly109Asp
NR_147941.1:n.1083G>A
NR_147942.1:n.1357G>A
XM_006719953.3:c.773G>A	XP_006720016.1:p.Gly258Asp
XM_017020741.1:c.773G>A	XP_016876230.1:p.Gly258Asp
XM_017020742.2:c.1045G>A	XP_016876231.1:p.Ala349Thr
XM_024449409.1:c.326G>A	XP_024305177.1:p.Gly109Asp
XR_001749664.2:n.1152G>A
XR_001749665.2:n.1152G>A
XR_001749666.2:n.1152G>A
XR_001749667.2:n.1152G>A
XR_001749668.2:n.1085G>A
XR_002957472.1:n.1085G>A
XR_243047.3:n.1152G>A
XR_243048.4:n.1152G>A
XR_243049.4:n.1152G>A
XR_243051.3:n.1085G>A
NM_024537.4:c.1112G>A MANE Select	NP_078813.1:p.Gly371Asp
NR_147942.2:n.1293G>A
NM_001352252.2:c.326G>A	NP_001339181.1:p.Gly109Asp