Canonical Allele Identifier: CA7051559

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110641552_110641553insGGTCGTGAGCAGGTTCATGGCTGTGCTCCATCCTCAGCCCGCTGATTCT , CM000675.2:g.110641552_110641553insGGTCGTGAGCAGGTTCATGGCTGTGCTCCATCCTCAGCCCGCTGATTCT	GRCh38
NC_000013.10:g.111293899_111293900insGGTCGTGAGCAGGTTCATGGCTGTGCTCCATCCTCAGCCCGCTGATTCT , CM000675.1:g.111293899_111293900insGGTCGTGAGCAGGTTCATGGCTGTGCTCCATCCTCAGCCCGCTGATTCT	GRCh37
NC_000013.9:g.110091900_110091901insGGTCGTGAGCAGGTTCATGGCTGTGCTCCATCCTCAGCCCGCTGATTCT	NCBI36
NG_042045.1:g.69629_69630insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
NG_042045.2:g.77050_77051insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1680_1681insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA MANE Select	ENSP00000257347.4:p.Lys561GlufsTer5
ENST00000257347.8:c.1680_1681insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	ENSP00000257347.4:p.Lys561GlufsTer5
ENST00000375781.9:n.2612_2613insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
ENST00000481787.6:n.1114_1115insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
ENST00000535516.5:n.2180_2181insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
ENST00000537802.5:n.3092_3093insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
ENST00000540006.5:n.1345_1346insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
ENST00000541239.5:n.3376_3377insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
NM_024537.2:c.1680_1681insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	NP_078813.1:p.Lys561GlufsTer5
NM_024537.3:c.1680_1681insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	NP_078813.1:p.Lys561GlufsTer5
XM_006719953.2:c.1341_1342insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	XP_006720016.1:p.Lys448GlufsTer5
XM_011521115.1:c.1341_1342insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	XP_011519417.1:p.Lys448GlufsTer5
XM_011521116.1:c.1335_1336insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	XP_011519418.1:p.Lys446GlufsTer5
XM_011521120.1:c.894_895insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	XP_011519422.1:p.Lys299GlufsTer5
XR_243047.2:n.1821_1822insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
XR_243048.3:n.1826_1827insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
XR_243049.3:n.1944_1945insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
XR_243051.2:n.1636_1637insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
NM_001352252.1:c.894_895insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	NP_001339181.1:p.Lys299GlufsTer5
NR_147941.1:n.1764_1765insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
NR_147942.1:n.2163_2164insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
XM_006719953.3:c.1341_1342insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	XP_006720016.1:p.Lys448GlufsTer5
XM_017020741.1:c.1341_1342insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	XP_016876230.1:p.Lys448GlufsTer5
XM_024449409.1:c.894_895insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	XP_024305177.1:p.Lys299GlufsTer5
XR_001749664.2:n.2379_2380insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
XR_002957472.1:n.2786_2787insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
XR_243047.3:n.1838_1839insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
XR_243048.4:n.1843_1844insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
XR_243049.4:n.1961_1962insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
XR_243051.3:n.1653_1654insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
NM_024537.4:c.1680_1681insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA MANE Select	NP_078813.1:p.Lys561GlufsTer5
NR_147942.2:n.2099_2100insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA
NM_001352252.2:c.894_895insGAATCAGCGGGCTGAGGATGGAGCACAGCCATGAACCTGCTCACGACCA	NP_001339181.1:p.Lys299GlufsTer5