Canonical Allele Identifier: CA7051913

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110647219C>T , CM000675.2:g.110647219C>T	GRCh38
NC_000013.10:g.111299566C>T , CM000675.1:g.111299566C>T	GRCh37
NC_000013.9:g.110097567C>T	NCBI36
NG_042045.1:g.63962G>A
NG_042045.2:g.71383G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1075G>A MANE Select	NP_078813.1:p.Ala359Thr
ENST00000257347.9:c.1075G>A MANE Select	ENSP00000257347.4:p.Ala359Thr
NM_001352252.1:c.289G>A	NP_001339181.1:p.Ala97Thr
NM_001352252.2:c.289G>A	NP_001339181.1:p.Ala97Thr
NM_024537.2:c.1075G>A	NP_078813.1:p.Ala359Thr
NM_024537.3:c.1075G>A	NP_078813.1:p.Ala359Thr
NR_147941.1:n.1046G>A
NR_147942.1:n.1320G>A
NR_147942.2:n.1256G>A
ENST00000257347.8:c.1075G>A	ENSP00000257347.4:p.Ala359Thr
ENST00000375781.9:n.346G>A
ENST00000481787.6:n.509G>A
ENST00000487253.6:c.156G>A
ENST00000535398.5:n.1267G>A
ENST00000535516.5:n.565G>A
ENST00000535615.5:n.359G>A
ENST00000537386.1:n.199G>A
ENST00000537404.1:n.195G>A
ENST00000537802.5:n.1359G>A
ENST00000540006.5:n.499G>A
ENST00000541362.5:n.299G>A
ENST00000543487.5:n.591G>A
ENST00000545506.5:n.420G>A
XM_006719953.2:c.736G>A	XP_006720016.1:p.Ala246Thr
XM_006719953.3:c.736G>A	XP_006720016.1:p.Ala246Thr
XM_011521114.1:c.1075G>A	XP_011519416.1:p.Ala359Thr
XM_011521115.1:c.736G>A	XP_011519417.1:p.Ala246Thr
XM_011521116.1:c.730G>A	XP_011519418.1:p.Ala244Thr
XM_011521120.1:c.289G>A	XP_011519422.1:p.Ala97Thr
XM_017020741.1:c.736G>A	XP_016876230.1:p.Ala246Thr
XM_017020742.2:c.1008G>A	XP_016876231.1:p.Ala336=
XM_024449409.1:c.289G>A	XP_024305177.1:p.Ala97Thr
XR_001749664.2:n.1115G>A
XR_001749665.2:n.1115G>A
XR_001749666.2:n.1115G>A
XR_001749667.2:n.1115G>A
XR_001749668.2:n.1048G>A
XR_002957472.1:n.1048G>A
XR_243047.2:n.1098G>A
XR_243047.3:n.1115G>A
XR_243048.3:n.1098G>A
XR_243048.4:n.1115G>A
XR_243049.3:n.1098G>A
XR_243049.4:n.1115G>A
XR_243051.2:n.1031G>A
XR_243051.3:n.1048G>A