Canonical Allele Identifier: CA7052399

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110705958T>C , CM000675.2:g.110705958T>C	GRCh38
NC_000013.10:g.111358305T>C , CM000675.1:g.111358305T>C	GRCh37
NC_000013.9:g.110156306T>C	NCBI36
NG_042045.1:g.5223A>G
NG_042045.2:g.12644A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.136A>G MANE Select	NP_078813.1:p.Thr46Ala
ENST00000257347.9:c.136A>G MANE Select	ENSP00000257347.4:p.Thr46Ala
NM_001352252.1:c.-775-387A>G	NP_001339181.1:n.-775-387A>G
NM_001352252.2:c.-775-387A>G	NP_001339181.1:n.-775-387A>G
NM_001352253.1:c.136A>G	NP_001339182.1:p.Thr46Ala
NM_001352253.2:c.136A>G	NP_001339182.1:p.Thr46Ala
NM_001352253.3:c.136A>G	NP_001339182.1:p.Thr46Ala
NM_024537.2:c.136A>G	NP_078813.1:p.Thr46Ala
NM_024537.3:c.136A>G	NP_078813.1:p.Thr46Ala
NR_147941.1:n.146-387A>G
NR_147942.1:n.223A>G
NR_147942.2:n.159A>G
ENST00000257347.8:c.136A>G	ENSP00000257347.4:p.Thr46Ala
ENST00000465145.5:n.100-387A>G
ENST00000485188.1:n.706-387A>G
ENST00000535398.5:n.468-4403A>G
ENST00000537394.5:c.136A>G	ENSP00000437962.1:p.Thr46Ala
ENST00000537412.5:n.466-387A>G
ENST00000539269.5:c.96A>G
ENST00000540629.5:n.256-387A>G
ENST00000541443.5:n.136-387A>G
ENST00000542126.5:n.221-387A>G
ENST00000544488.5:n.386+7179A>G
XM_006719953.2:c.-115-387A>G	XP_006720016.1:n.-115-387A>G
XM_006719953.3:c.-115-387A>G	XP_006720016.1:n.-115-387A>G
XM_011521114.1:c.136A>G	XP_011519416.1:p.Thr46Ala
XM_011521115.1:c.-115-387A>G	XP_011519417.1:n.-115-387A>G
XM_011521116.1:c.-260A>G	XP_011519418.1:n.-260A>G
XM_011521117.1:c.136A>G	XP_011519419.1:p.Thr46Ala
XM_011521117.3:c.136A>G	XP_011519419.1:p.Thr46Ala
XM_011521118.1:c.136A>G	XP_011519420.1:p.Thr46Ala
XM_011521118.3:c.136A>G	XP_011519420.1:p.Thr46Ala
XM_011521119.1:c.136A>G	XP_011519421.1:p.Thr46Ala
XM_011521120.1:c.-384-387A>G	XP_011519422.1:n.-384-387A>G
XM_017020741.1:c.-64-4403A>G	XP_016876230.1:n.-64-4403A>G
XM_017020742.2:c.136A>G	XP_016876231.1:p.Thr46Ala
XM_024449409.1:c.-473A>G	XP_024305177.1:n.-473A>G
XR_001749664.2:n.176A>G
XR_001749665.2:n.176A>G
XR_001749666.2:n.176A>G
XR_001749667.2:n.176A>G
XR_001749668.2:n.176A>G
XR_002957472.1:n.176A>G
XR_243047.2:n.159A>G
XR_243047.3:n.176A>G
XR_243048.3:n.159A>G
XR_243048.4:n.176A>G
XR_243049.3:n.159A>G
XR_243049.4:n.176A>G
XR_243051.2:n.159A>G
XR_243051.3:n.176A>G