Canonical Allele Identifier: CA7051553

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110641543C>T , CM000675.2:g.110641543C>T	GRCh38
NC_000013.10:g.111293890C>T , CM000675.1:g.111293890C>T	GRCh37
NC_000013.9:g.110091891C>T	NCBI36
NG_042045.1:g.69638G>A
NG_042045.2:g.77059G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1689G>A MANE Select	ENSP00000257347.4:p.Ala563=
ENST00000257347.8:c.1689G>A	ENSP00000257347.4:p.Ala563=
ENST00000375781.9:n.2621G>A
ENST00000481787.6:n.1123G>A
ENST00000535516.5:n.2189G>A
ENST00000537802.5:n.3101G>A
ENST00000540006.5:n.1354G>A
ENST00000541239.5:n.3385G>A
NM_024537.2:c.1689G>A	NP_078813.1:p.Ala563=
NM_024537.3:c.1689G>A	NP_078813.1:p.Ala563=
XM_006719953.2:c.1350G>A	XP_006720016.1:p.Ala450=
XM_011521115.1:c.1350G>A	XP_011519417.1:p.Ala450=
XM_011521116.1:c.1344G>A	XP_011519418.1:p.Ala448=
XM_011521120.1:c.903G>A	XP_011519422.1:p.Ala301=
XR_243047.2:n.1830G>A
XR_243048.3:n.1835G>A
XR_243049.3:n.1953G>A
XR_243051.2:n.1645G>A
NM_001352252.1:c.903G>A	NP_001339181.1:p.Ala301=
NR_147941.1:n.1773G>A
NR_147942.1:n.2172G>A
XM_006719953.3:c.1350G>A	XP_006720016.1:p.Ala450=
XM_017020741.1:c.1350G>A	XP_016876230.1:p.Ala450=
XM_024449409.1:c.903G>A	XP_024305177.1:p.Ala301=
XR_001749664.2:n.2388G>A
XR_002957472.1:n.2795G>A
XR_243047.3:n.1847G>A
XR_243048.4:n.1852G>A
XR_243049.4:n.1970G>A
XR_243051.3:n.1662G>A
NM_024537.4:c.1689G>A MANE Select	NP_078813.1:p.Ala563=
NR_147942.2:n.2108G>A
NM_001352252.2:c.903G>A	NP_001339181.1:p.Ala301=