Canonical Allele Identifier: CA484813428

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110644433G>A , CM000675.2:g.110644433G>A	GRCh38
NC_000013.10:g.111296780G>A , CM000675.1:g.111296780G>A	GRCh37
NC_000013.9:g.110094781G>A	NCBI36
NG_042045.1:g.66748C>T
NG_042045.2:g.74169C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1368C>T MANE Select	NP_078813.1:p.Tyr456=
ENST00000257347.9:c.1368C>T MANE Select	ENSP00000257347.4:p.Tyr456=
NM_001352252.1:c.582C>T	NP_001339181.1:p.Tyr194=
NM_001352252.2:c.582C>T	NP_001339181.1:p.Tyr194=
NM_024537.2:c.1368C>T	NP_078813.1:p.Tyr456=
NM_024537.3:c.1368C>T	NP_078813.1:p.Tyr456=
NR_147941.1:n.1339C>T
NR_147942.1:n.1733C>T
NR_147942.2:n.1669C>T
ENST00000257347.8:c.1368C>T	ENSP00000257347.4:p.Tyr456=
ENST00000375781.9:n.639C>T
ENST00000471986.2:n.107+1534C>T
ENST00000480437.5:n.363C>T
ENST00000481787.6:n.802C>T
ENST00000487253.6:c.449C>T
ENST00000535398.5:n.1687C>T
ENST00000535516.5:n.1868C>T
ENST00000535615.5:n.652C>T
ENST00000537802.5:n.2662C>T
ENST00000540006.5:n.915C>T
ENST00000540215.1:n.584C>T
ENST00000541239.5:n.1201C>T
ENST00000542774.5:n.249C>T
ENST00000620794.1:c.190C>T
XM_006719953.2:c.1029C>T	XP_006720016.1:p.Tyr343=
XM_006719953.3:c.1029C>T	XP_006720016.1:p.Tyr343=
XM_011521115.1:c.1029C>T	XP_011519417.1:p.Tyr343=
XM_011521116.1:c.1023C>T	XP_011519418.1:p.Tyr341=
XM_011521120.1:c.582C>T	XP_011519422.1:p.Tyr194=
XM_017020741.1:c.1029C>T	XP_016876230.1:p.Tyr343=
XM_024449409.1:c.582C>T	XP_024305177.1:p.Tyr194=
XR_001749664.2:n.1949C>T
XR_001749665.2:n.1949C>T
XR_001749666.2:n.2072C>T
XR_001749667.2:n.1408C>T
XR_001749668.2:n.1341C>T
XR_002957472.1:n.2474C>T
XR_243047.2:n.1391C>T
XR_243047.3:n.1408C>T
XR_243048.3:n.1514C>T
XR_243048.4:n.1531C>T
XR_243049.3:n.1514C>T
XR_243049.4:n.1531C>T
XR_243051.2:n.1324C>T
XR_243051.3:n.1341C>T