Canonical Allele Identifier: CA7051869

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110646107G>C , CM000675.2:g.110646107G>C	GRCh38
NC_000013.10:g.111298454G>C , CM000675.1:g.111298454G>C	GRCh37
NC_000013.9:g.110096455G>C	NCBI36
NG_042045.1:g.65074C>G
NG_042045.2:g.72495C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1194-17C>G MANE Select	ENSP00000257347.4:n.1194-17C>G
ENST00000257347.8:c.1194-17C>G	ENSP00000257347.4:n.1194-17C>G
ENST00000375781.9:n.465-17C>G
ENST00000480437.5:n.172C>G
ENST00000481787.6:n.628-17C>G
ENST00000487253.6:c.275-17C>G
ENST00000535398.5:n.1513-17C>G
ENST00000535516.5:n.1677C>G
ENST00000535615.5:n.478-17C>G
ENST00000537802.5:n.2471C>G
ENST00000540006.5:n.618-17C>G
ENST00000540215.1:n.270C>G
ENST00000543487.5:n.710-17C>G
ENST00000620794.1:c.16-17C>G
NM_024537.2:c.1194-17C>G	NP_078813.1:n.1194-17C>G
NM_024537.3:c.1194-17C>G	NP_078813.1:n.1194-17C>G
XM_006719953.2:c.855-17C>G	XP_006720016.1:n.855-17C>G
XM_011521114.1:c.*254C>G	XP_011519416.1:n.*254C>G
XM_011521115.1:c.855-17C>G	XP_011519417.1:n.855-17C>G
XM_011521116.1:c.849-17C>G	XP_011519418.1:n.849-17C>G
XM_011521120.1:c.408-17C>G	XP_011519422.1:n.408-17C>G
XR_243047.2:n.1217-17C>G
XR_243048.3:n.1217-17C>G
XR_243049.3:n.1217-17C>G
XR_243051.2:n.1150-17C>G
NM_001352252.1:c.408-17C>G	NP_001339181.1:n.408-17C>G
NR_147941.1:n.1165-17C>G
NR_147942.1:n.1439-17C>G
XM_006719953.3:c.855-17C>G	XP_006720016.1:n.855-17C>G
XM_017020741.1:c.855-17C>G	XP_016876230.1:n.855-17C>G
XM_024449409.1:c.408-17C>G	XP_024305177.1:n.408-17C>G
XR_001749664.2:n.1758C>G
XR_001749665.2:n.1758C>G
XR_001749666.2:n.1758C>G
XR_001749667.2:n.1234-17C>G
XR_001749668.2:n.1167-17C>G
XR_002957472.1:n.2160C>G
XR_243047.3:n.1234-17C>G
XR_243048.4:n.1234-17C>G
XR_243049.4:n.1234-17C>G
XR_243051.3:n.1167-17C>G
NM_024537.4:c.1194-17C>G MANE Select	NP_078813.1:n.1194-17C>G
NR_147942.2:n.1375-17C>G
NM_001352252.2:c.408-17C>G	NP_001339181.1:n.408-17C>G