Canonical Allele Identifier: CA7051558

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110641551T>C , CM000675.2:g.110641551T>C	GRCh38
NC_000013.10:g.111293898T>C , CM000675.1:g.111293898T>C	GRCh37
NC_000013.9:g.110091899T>C	NCBI36
NG_042045.1:g.69630A>G
NG_042045.2:g.77051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1681A>G MANE Select	ENSP00000257347.4:p.Lys561Glu
ENST00000257347.8:c.1681A>G	ENSP00000257347.4:p.Lys561Glu
ENST00000375781.9:n.2613A>G
ENST00000481787.6:n.1115A>G
ENST00000535516.5:n.2181A>G
ENST00000537802.5:n.3093A>G
ENST00000540006.5:n.1346A>G
ENST00000541239.5:n.3377A>G
NM_024537.2:c.1681A>G	NP_078813.1:p.Lys561Glu
NM_024537.3:c.1681A>G	NP_078813.1:p.Lys561Glu
XM_006719953.2:c.1342A>G	XP_006720016.1:p.Lys448Glu
XM_011521115.1:c.1342A>G	XP_011519417.1:p.Lys448Glu
XM_011521116.1:c.1336A>G	XP_011519418.1:p.Lys446Glu
XM_011521120.1:c.895A>G	XP_011519422.1:p.Lys299Glu
XR_243047.2:n.1822A>G
XR_243048.3:n.1827A>G
XR_243049.3:n.1945A>G
XR_243051.2:n.1637A>G
NM_001352252.1:c.895A>G	NP_001339181.1:p.Lys299Glu
NR_147941.1:n.1765A>G
NR_147942.1:n.2164A>G
XM_006719953.3:c.1342A>G	XP_006720016.1:p.Lys448Glu
XM_017020741.1:c.1342A>G	XP_016876230.1:p.Lys448Glu
XM_024449409.1:c.895A>G	XP_024305177.1:p.Lys299Glu
XR_001749664.2:n.2380A>G
XR_002957472.1:n.2787A>G
XR_243047.3:n.1839A>G
XR_243048.4:n.1844A>G
XR_243049.4:n.1962A>G
XR_243051.3:n.1654A>G
NM_024537.4:c.1681A>G MANE Select	NP_078813.1:p.Lys561Glu
NR_147942.2:n.2100A>G
NM_001352252.2:c.895A>G	NP_001339181.1:p.Lys299Glu