Canonical Allele Identifier: CA484981818

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110642339C>T , CM000675.2:g.110642339C>T	GRCh38
NC_000013.10:g.111294686C>T , CM000675.1:g.111294686C>T	GRCh37
NC_000013.9:g.110092687C>T	NCBI36
NG_042045.1:g.68842G>A
NG_042045.2:g.76263G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1599G>A MANE Select	NP_078813.1:p.Leu533=
ENST00000257347.9:c.1599G>A MANE Select	ENSP00000257347.4:p.Leu533=
NM_001352252.1:c.813G>A	NP_001339181.1:p.Leu271=
NM_001352252.2:c.813G>A	NP_001339181.1:p.Leu271=
NM_024537.2:c.1599G>A	NP_078813.1:p.Leu533=
NM_024537.3:c.1599G>A	NP_078813.1:p.Leu533=
NR_147941.1:n.1683G>A
NR_147942.1:n.2082G>A
NR_147942.2:n.2018G>A
ENST00000257347.8:c.1599G>A	ENSP00000257347.4:p.Leu533=
ENST00000375781.9:n.2531G>A
ENST00000481787.6:n.1033G>A
ENST00000487253.6:c.798G>A
ENST00000535516.5:n.2099G>A
ENST00000537802.5:n.3011G>A
ENST00000540006.5:n.1264G>A
ENST00000541239.5:n.3295G>A
ENST00000542774.5:n.598G>A
XM_006719953.2:c.1260G>A	XP_006720016.1:p.Leu420=
XM_006719953.3:c.1260G>A	XP_006720016.1:p.Leu420=
XM_011521115.1:c.1260G>A	XP_011519417.1:p.Leu420=
XM_011521116.1:c.1254G>A	XP_011519418.1:p.Leu418=
XM_011521120.1:c.813G>A	XP_011519422.1:p.Leu271=
XM_017020741.1:c.1260G>A	XP_016876230.1:p.Leu420=
XM_024449409.1:c.813G>A	XP_024305177.1:p.Leu271=
XR_001749664.2:n.2298G>A
XR_002957472.1:n.2705G>A
XR_243047.2:n.1740G>A
XR_243047.3:n.1757G>A
XR_243048.3:n.1745G>A
XR_243048.4:n.1762G>A
XR_243049.3:n.1863G>A
XR_243049.4:n.1880G>A
XR_243051.2:n.1555G>A
XR_243051.3:n.1572G>A