Canonical Allele Identifier: CA7051842

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110645957G>A , CM000675.2:g.110645957G>A	GRCh38
NC_000013.10:g.111298304G>A , CM000675.1:g.111298304G>A	GRCh37
NC_000013.9:g.110096305G>A	NCBI36
NG_042045.1:g.65224C>T
NG_042045.2:g.72645C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1317+10C>T MANE Select	ENSP00000257347.4:n.1317+10C>T
ENST00000257347.8:c.1317+10C>T	ENSP00000257347.4:n.1317+10C>T
ENST00000375781.9:n.588+10C>T
ENST00000471986.2:n.107+10C>T
ENST00000480437.5:n.312+10C>T
ENST00000481787.6:n.751+10C>T
ENST00000487253.6:c.398+10C>T
ENST00000535398.5:n.1636+10C>T
ENST00000535516.5:n.1817+10C>T
ENST00000535615.5:n.601+10C>T
ENST00000537802.5:n.2611+10C>T
ENST00000540006.5:n.741+10C>T
ENST00000540215.1:n.410+10C>T
ENST00000543487.5:n.843C>T
ENST00000620794.1:c.139+10C>T
NM_024537.2:c.1317+10C>T	NP_078813.1:n.1317+10C>T
NM_024537.3:c.1317+10C>T	NP_078813.1:n.1317+10C>T
XM_006719953.2:c.978+10C>T	XP_006720016.1:n.978+10C>T
XM_011521115.1:c.978+10C>T	XP_011519417.1:n.978+10C>T
XM_011521116.1:c.972+10C>T	XP_011519418.1:n.972+10C>T
XM_011521120.1:c.531+10C>T	XP_011519422.1:n.531+10C>T
XR_243047.2:n.1340+10C>T
XR_243048.3:n.1340+10C>T
XR_243049.3:n.1340+10C>T
XR_243051.2:n.1273+10C>T
NM_001352252.1:c.531+10C>T	NP_001339181.1:n.531+10C>T
NR_147941.1:n.1288+10C>T
NR_147942.1:n.1562+10C>T
XM_006719953.3:c.978+10C>T	XP_006720016.1:n.978+10C>T
XM_017020741.1:c.978+10C>T	XP_016876230.1:n.978+10C>T
XM_024449409.1:c.531+10C>T	XP_024305177.1:n.531+10C>T
XR_001749664.2:n.1898+10C>T
XR_001749665.2:n.1898+10C>T
XR_001749666.2:n.1898+10C>T
XR_001749667.2:n.1357+10C>T
XR_001749668.2:n.1290+10C>T
XR_002957472.1:n.2300+10C>T
XR_243047.3:n.1357+10C>T
XR_243048.4:n.1357+10C>T
XR_243049.4:n.1357+10C>T
XR_243051.3:n.1290+10C>T
NM_024537.4:c.1317+10C>T MANE Select	NP_078813.1:n.1317+10C>T
NR_147942.2:n.1498+10C>T
NM_001352252.2:c.531+10C>T	NP_001339181.1:n.531+10C>T