Canonical Allele Identifier: CA658798040
Gene: CARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 521824
dbSNP Id: rs1555342802

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110644441dup , CM000675.2:g.110644441dup GRCh38
NC_000013.10:g.111296788dup , CM000675.1:g.111296788dup GRCh37
NC_000013.9:g.110094789dup NCBI36
NG_042045.1:g.66740dup
NG_042045.2:g.74161dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000257347.9:c.1360dup MANE Select ENSP00000257347.4:p.Ile454AsnfsTer5
ENST00000257347.8:c.1360dup ENSP00000257347.4:p.Ile454AsnfsTer5
ENST00000375781.9:n.631dup
ENST00000471986.2:n.107+1526dup
ENST00000480437.5:n.355dup
ENST00000481787.6:n.794dup
ENST00000487253.6:c.441dup
ENST00000535398.5:n.1679dup
ENST00000535516.5:n.1860dup
ENST00000535615.5:n.644dup
ENST00000537802.5:n.2654dup
ENST00000540006.5:n.907dup
ENST00000540215.1:n.576dup
ENST00000541239.5:n.1193dup
ENST00000542774.5:n.241dup
ENST00000620794.1:c.182dup
NM_024537.2:c.1360dup NP_078813.1:p.Ile454AsnfsTer5
NM_024537.3:c.1360dup NP_078813.1:p.Ile454AsnfsTer5
XM_006719953.2:c.1021dup XP_006720016.1:p.Ile341AsnfsTer5
XM_011521115.1:c.1021dup XP_011519417.1:p.Ile341AsnfsTer5
XM_011521116.1:c.1015dup XP_011519418.1:p.Ile339AsnfsTer5
XM_011521120.1:c.574dup XP_011519422.1:p.Ile192AsnfsTer5
XR_243047.2:n.1383dup
XR_243048.3:n.1506dup
XR_243049.3:n.1506dup
XR_243051.2:n.1316dup
NM_001352252.1:c.574dup NP_001339181.1:p.Ile192AsnfsTer5
NR_147941.1:n.1331dup
NR_147942.1:n.1725dup
XM_006719953.3:c.1021dup XP_006720016.1:p.Ile341AsnfsTer5
XM_017020741.1:c.1021dup XP_016876230.1:p.Ile341AsnfsTer5
XM_024449409.1:c.574dup XP_024305177.1:p.Ile192AsnfsTer5
XR_001749664.2:n.1941dup
XR_001749665.2:n.1941dup
XR_001749666.2:n.2064dup
XR_001749667.2:n.1400dup
XR_001749668.2:n.1333dup
XR_002957472.1:n.2466dup
XR_243047.3:n.1400dup
XR_243048.4:n.1523dup
XR_243049.4:n.1523dup
XR_243051.3:n.1333dup
NM_024537.4:c.1360dup MANE Select NP_078813.1:p.Ile454AsnfsTer5
NR_147942.2:n.1661dup
NM_001352252.2:c.574dup NP_001339181.1:p.Ile192AsnfsTer5