Canonical Allele Identifier: CA7052261

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110688003C>T , CM000675.2:g.110688003C>T	GRCh38
NC_000013.10:g.111340350C>T , CM000675.1:g.111340350C>T	GRCh37
NC_000013.9:g.110138351C>T	NCBI36
NG_042045.1:g.23178G>A
NG_042045.2:g.30599G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.409G>A MANE Select	NP_078813.1:p.Ala137Thr
ENST00000257347.9:c.409G>A MANE Select	ENSP00000257347.4:p.Ala137Thr
NM_001352252.1:c.-591G>A	NP_001339181.1:n.-591G>A
NM_001352252.2:c.-591G>A	NP_001339181.1:n.-591G>A
NM_001352253.1:c.409G>A	NP_001339182.1:p.Ala137Thr
NM_001352253.2:c.409G>A	NP_001339182.1:p.Ala137Thr
NM_001352253.3:c.409G>A	NP_001339182.1:p.Ala137Thr
NM_024537.2:c.409G>A	NP_078813.1:p.Ala137Thr
NM_024537.3:c.409G>A	NP_078813.1:p.Ala137Thr
NR_147941.1:n.380G>A
NR_147942.1:n.496G>A
NR_147942.2:n.432G>A
ENST00000257347.8:c.409G>A	ENSP00000257347.4:p.Ala137Thr
ENST00000465145.5:n.334G>A
ENST00000535398.5:n.601G>A
ENST00000537394.5:c.*64G>A	ENSP00000437962.1:n.*64G>A
ENST00000539269.5:c.419G>A
ENST00000540629.5:n.440G>A
ENST00000541443.5:n.320G>A
ENST00000542126.5:n.405G>A
ENST00000542709.5:c.382G>A	ENSP00000444655.1:p.Ala128Thr
ENST00000544488.5:n.387-4869G>A
XM_006719953.2:c.70G>A	XP_006720016.1:p.Ala24Thr
XM_006719953.3:c.70G>A	XP_006720016.1:p.Ala24Thr
XM_011521114.1:c.409G>A	XP_011519416.1:p.Ala137Thr
XM_011521115.1:c.70G>A	XP_011519417.1:p.Ala24Thr
XM_011521116.1:c.64G>A	XP_011519418.1:p.Ala22Thr
XM_011521117.1:c.409G>A	XP_011519419.1:p.Ala137Thr
XM_011521117.3:c.409G>A	XP_011519419.1:p.Ala137Thr
XM_011521118.1:c.409G>A	XP_011519420.1:p.Ala137Thr
XM_011521118.3:c.409G>A	XP_011519420.1:p.Ala137Thr
XM_011521119.1:c.409G>A	XP_011519421.1:p.Ala137Thr
XM_011521120.1:c.-215-4869G>A	XP_011519422.1:n.-215-4869G>A
XM_017020741.1:c.70G>A	XP_016876230.1:p.Ala24Thr
XM_017020742.2:c.409G>A	XP_016876231.1:p.Ala137Thr
XM_024449409.1:c.-215-4869G>A	XP_024305177.1:n.-215-4869G>A
XR_001749664.2:n.449G>A
XR_001749665.2:n.449G>A
XR_001749666.2:n.449G>A
XR_001749667.2:n.449G>A
XR_001749668.2:n.449G>A
XR_002957472.1:n.449G>A
XR_243047.2:n.432G>A
XR_243047.3:n.449G>A
XR_243048.3:n.432G>A
XR_243048.4:n.449G>A
XR_243049.3:n.432G>A
XR_243049.4:n.449G>A
XR_243051.2:n.432G>A
XR_243051.3:n.449G>A