Canonical Allele Identifier: CA484816890

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110651080G>A , CM000675.2:g.110651080G>A	GRCh38
NC_000013.10:g.111303427G>A , CM000675.1:g.111303427G>A	GRCh37
NC_000013.9:g.110101428G>A	NCBI36
NG_042045.1:g.60101C>T
NG_042045.2:g.67522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1008C>T MANE Select	ENSP00000257347.4:p.Ser336=
ENST00000257347.8:c.1008C>T	ENSP00000257347.4:p.Ser336=
ENST00000375781.9:n.326-3841C>T
ENST00000481787.6:n.442C>T
ENST00000487253.6:c.89C>T
ENST00000535398.5:n.1200C>T
ENST00000535516.5:n.101C>T
ENST00000535615.5:n.292C>T
ENST00000537386.1:n.179-3841C>T
ENST00000537404.1:n.128C>T
ENST00000537802.5:n.312C>T
ENST00000539405.1:n.208C>T
ENST00000540006.5:n.432C>T
ENST00000541362.5:n.279-3841C>T
ENST00000543487.5:n.524C>T
ENST00000545506.5:n.353C>T
NM_024537.2:c.1008C>T	NP_078813.1:p.Ser336=
NM_024537.3:c.1008C>T	NP_078813.1:p.Ser336=
XM_006719953.2:c.669C>T	XP_006720016.1:p.Ser223=
XM_011521114.1:c.1008C>T	XP_011519416.1:p.Ser336=
XM_011521115.1:c.669C>T	XP_011519417.1:p.Ser223=
XM_011521116.1:c.663C>T	XP_011519418.1:p.Ser221=
XM_011521120.1:c.222C>T	XP_011519422.1:p.Ser74=
XR_243047.2:n.1031C>T
XR_243048.3:n.1031C>T
XR_243049.3:n.1031C>T
XR_243051.2:n.1011-3841C>T
NM_001352252.1:c.222C>T	NP_001339181.1:p.Ser74=
NR_147941.1:n.979C>T
NR_147942.1:n.1253C>T
XM_006719953.3:c.669C>T	XP_006720016.1:p.Ser223=
XM_017020741.1:c.669C>T	XP_016876230.1:p.Ser223=
XM_017020742.2:c.988-3841C>T	XP_016876231.1:n.988-3841C>T
XM_024449409.1:c.222C>T	XP_024305177.1:p.Ser74=
XR_001749664.2:n.1048C>T
XR_001749665.2:n.1048C>T
XR_001749666.2:n.1048C>T
XR_001749667.2:n.1048C>T
XR_001749668.2:n.1028-3841C>T
XR_002957472.1:n.1028-3841C>T
XR_243047.3:n.1048C>T
XR_243048.4:n.1048C>T
XR_243049.4:n.1048C>T
XR_243051.3:n.1028-3841C>T
NM_024537.4:c.1008C>T MANE Select	NP_078813.1:p.Ser336=
NR_147942.2:n.1189C>T
NM_001352252.2:c.222C>T	NP_001339181.1:p.Ser74=