Canonical Allele Identifier: CA7051904

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110647166G>A , CM000675.2:g.110647166G>A	GRCh38
NC_000013.10:g.111299513G>A , CM000675.1:g.111299513G>A	GRCh37
NC_000013.9:g.110097514G>A	NCBI36
NG_042045.1:g.64015C>T
NG_042045.2:g.71436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1128C>T MANE Select	ENSP00000257347.4:p.Asp376=
ENST00000257347.8:c.1128C>T	ENSP00000257347.4:p.Asp376=
ENST00000375781.9:n.399C>T
ENST00000481787.6:n.562C>T
ENST00000487253.6:c.209C>T
ENST00000535398.5:n.1320C>T
ENST00000535516.5:n.618C>T
ENST00000535615.5:n.412C>T
ENST00000537386.1:n.252C>T
ENST00000537404.1:n.248C>T
ENST00000537802.5:n.1412C>T
ENST00000540006.5:n.552C>T
ENST00000541362.5:n.352C>T
ENST00000543487.5:n.644C>T
ENST00000545506.5:n.473C>T
NM_024537.2:c.1128C>T	NP_078813.1:p.Asp376=
NM_024537.3:c.1128C>T	NP_078813.1:p.Asp376=
XM_006719953.2:c.789C>T	XP_006720016.1:p.Asp263=
XM_011521114.1:c.1128C>T	XP_011519416.1:p.Asp376=
XM_011521115.1:c.789C>T	XP_011519417.1:p.Asp263=
XM_011521116.1:c.783C>T	XP_011519418.1:p.Asp261=
XM_011521120.1:c.342C>T	XP_011519422.1:p.Asp114=
XR_243047.2:n.1151C>T
XR_243048.3:n.1151C>T
XR_243049.3:n.1151C>T
XR_243051.2:n.1084C>T
NM_001352252.1:c.342C>T	NP_001339181.1:p.Asp114=
NR_147941.1:n.1099C>T
NR_147942.1:n.1373C>T
XM_006719953.3:c.789C>T	XP_006720016.1:p.Asp263=
XM_017020741.1:c.789C>T	XP_016876230.1:p.Asp263=
XM_017020742.2:c.1061C>T	XP_016876231.1:p.Thr354Met
XM_024449409.1:c.342C>T	XP_024305177.1:p.Asp114=
XR_001749664.2:n.1168C>T
XR_001749665.2:n.1168C>T
XR_001749666.2:n.1168C>T
XR_001749667.2:n.1168C>T
XR_001749668.2:n.1101C>T
XR_002957472.1:n.1101C>T
XR_243047.3:n.1168C>T
XR_243048.4:n.1168C>T
XR_243049.4:n.1168C>T
XR_243051.3:n.1101C>T
NM_024537.4:c.1128C>T MANE Select	NP_078813.1:p.Asp376=
NR_147942.2:n.1309C>T
NM_001352252.2:c.342C>T	NP_001339181.1:p.Asp114=