Canonical Allele Identifier: CA484815320

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110646069G>A , CM000675.2:g.110646069G>A	GRCh38
NC_000013.10:g.111298416G>A , CM000675.1:g.111298416G>A	GRCh37
NC_000013.9:g.110096417G>A	NCBI36
NG_042045.1:g.65112C>T
NG_042045.2:g.72533C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1215C>T MANE Select	NP_078813.1:p.Ala405=
ENST00000257347.9:c.1215C>T MANE Select	ENSP00000257347.4:p.Ala405=
NM_001352252.1:c.429C>T	NP_001339181.1:p.Ala143=
NM_001352252.2:c.429C>T	NP_001339181.1:p.Ala143=
NM_024537.2:c.1215C>T	NP_078813.1:p.Ala405=
NM_024537.3:c.1215C>T	NP_078813.1:p.Ala405=
NR_147941.1:n.1186C>T
NR_147942.1:n.1460C>T
NR_147942.2:n.1396C>T
ENST00000257347.8:c.1215C>T	ENSP00000257347.4:p.Ala405=
ENST00000375781.9:n.486C>T
ENST00000471986.2:n.5C>T
ENST00000480437.5:n.210C>T
ENST00000481787.6:n.649C>T
ENST00000487253.6:c.296C>T
ENST00000535398.5:n.1534C>T
ENST00000535516.5:n.1715C>T
ENST00000535615.5:n.499C>T
ENST00000537802.5:n.2509C>T
ENST00000540006.5:n.639C>T
ENST00000540215.1:n.308C>T
ENST00000543487.5:n.731C>T
ENST00000620794.1:c.37C>T
XM_006719953.2:c.876C>T	XP_006720016.1:p.Ala292=
XM_006719953.3:c.876C>T	XP_006720016.1:p.Ala292=
XM_011521115.1:c.876C>T	XP_011519417.1:p.Ala292=
XM_011521116.1:c.870C>T	XP_011519418.1:p.Ala290=
XM_011521120.1:c.429C>T	XP_011519422.1:p.Ala143=
XM_017020741.1:c.876C>T	XP_016876230.1:p.Ala292=
XM_024449409.1:c.429C>T	XP_024305177.1:p.Ala143=
XR_001749664.2:n.1796C>T
XR_001749665.2:n.1796C>T
XR_001749666.2:n.1796C>T
XR_001749667.2:n.1255C>T
XR_001749668.2:n.1188C>T
XR_002957472.1:n.2198C>T
XR_243047.2:n.1238C>T
XR_243047.3:n.1255C>T
XR_243048.3:n.1238C>T
XR_243048.4:n.1255C>T
XR_243049.3:n.1238C>T
XR_243049.4:n.1255C>T
XR_243051.2:n.1171C>T
XR_243051.3:n.1188C>T