Canonical Allele Identifier: CA388740577

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110642512C>G , CM000675.2:g.110642512C>G	GRCh38
NC_000013.10:g.111294859C>G , CM000675.1:g.111294859C>G	GRCh37
NC_000013.9:g.110092860C>G	NCBI36
NG_042045.1:g.68669G>C
NG_042045.2:g.76090G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1426G>C MANE Select	NP_078813.1:p.Gly476Arg
ENST00000257347.9:c.1426G>C MANE Select	ENSP00000257347.4:p.Gly476Arg
NM_001352252.1:c.640G>C	NP_001339181.1:p.Gly214Arg
NM_001352252.2:c.640G>C	NP_001339181.1:p.Gly214Arg
NM_024537.2:c.1426G>C	NP_078813.1:p.Gly476Arg
NM_024537.3:c.1426G>C	NP_078813.1:p.Gly476Arg
NR_147941.1:n.1510G>C
NR_147942.1:n.1909G>C
NR_147942.2:n.1845G>C
ENST00000257347.8:c.1426G>C	ENSP00000257347.4:p.Gly476Arg
ENST00000375781.9:n.2358G>C
ENST00000471986.2:n.108-15G>C
ENST00000480437.5:n.421G>C
ENST00000481787.6:n.860G>C
ENST00000487253.6:c.625G>C
ENST00000535516.5:n.1926G>C
ENST00000535615.5:n.710G>C
ENST00000537802.5:n.2838G>C
ENST00000540006.5:n.1091G>C
ENST00000541239.5:n.3122G>C
ENST00000542774.5:n.425G>C
XM_006719953.2:c.1087G>C	XP_006720016.1:p.Gly363Arg
XM_006719953.3:c.1087G>C	XP_006720016.1:p.Gly363Arg
XM_011521115.1:c.1087G>C	XP_011519417.1:p.Gly363Arg
XM_011521116.1:c.1081G>C	XP_011519418.1:p.Gly361Arg
XM_011521120.1:c.640G>C	XP_011519422.1:p.Gly214Arg
XM_017020741.1:c.1087G>C	XP_016876230.1:p.Gly363Arg
XM_024449409.1:c.640G>C	XP_024305177.1:p.Gly214Arg
XR_001749664.2:n.2125G>C
XR_001749665.2:n.2007G>C
XR_002957472.1:n.2532G>C
XR_243047.2:n.1567G>C
XR_243047.3:n.1584G>C
XR_243048.3:n.1572G>C
XR_243048.4:n.1589G>C
XR_243049.3:n.1690G>C
XR_243049.4:n.1707G>C
XR_243051.2:n.1382G>C
XR_243051.3:n.1399G>C