Canonical Allele Identifier: CA7051614

Gene: CARS2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110642403C>T , CM000675.2:g.110642403C>T	GRCh38
NC_000013.10:g.111294750C>T , CM000675.1:g.111294750C>T	GRCh37
NC_000013.9:g.110092751C>T	NCBI36
NG_042045.1:g.68778G>A
NG_042045.2:g.76199G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.1535G>A MANE Select	ENSP00000257347.4:p.Arg512Gln
ENST00000257347.8:c.1535G>A	ENSP00000257347.4:p.Arg512Gln
ENST00000375781.9:n.2467G>A
ENST00000471986.2:n.202G>A
ENST00000481787.6:n.969G>A
ENST00000487253.6:c.734G>A
ENST00000535516.5:n.2035G>A
ENST00000537802.5:n.2947G>A
ENST00000540006.5:n.1200G>A
ENST00000541239.5:n.3231G>A
ENST00000542774.5:n.534G>A
NM_024537.2:c.1535G>A	NP_078813.1:p.Arg512Gln
NM_024537.3:c.1535G>A	NP_078813.1:p.Arg512Gln
XM_006719953.2:c.1196G>A	XP_006720016.1:p.Arg399Gln
XM_011521115.1:c.1196G>A	XP_011519417.1:p.Arg399Gln
XM_011521116.1:c.1190G>A	XP_011519418.1:p.Arg397Gln
XM_011521120.1:c.749G>A	XP_011519422.1:p.Arg250Gln
XR_243047.2:n.1676G>A
XR_243048.3:n.1681G>A
XR_243049.3:n.1799G>A
XR_243051.2:n.1491G>A
NM_001352252.1:c.749G>A	NP_001339181.1:p.Arg250Gln
NR_147941.1:n.1619G>A
NR_147942.1:n.2018G>A
XM_006719953.3:c.1196G>A	XP_006720016.1:p.Arg399Gln
XM_017020741.1:c.1196G>A	XP_016876230.1:p.Arg399Gln
XM_024449409.1:c.749G>A	XP_024305177.1:p.Arg250Gln
XR_001749664.2:n.2234G>A
XR_002957472.1:n.2641G>A
XR_243047.3:n.1693G>A
XR_243048.4:n.1698G>A
XR_243049.4:n.1816G>A
XR_243051.3:n.1508G>A
NM_024537.4:c.1535G>A MANE Select	NP_078813.1:p.Arg512Gln
NR_147942.2:n.1954G>A
NM_001352252.2:c.749G>A	NP_001339181.1:p.Arg250Gln