Canonical Allele Identifier: CA7051935

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110650993C>T , CM000675.2:g.110650993C>T	GRCh38
NC_000013.10:g.111303340C>T , CM000675.1:g.111303340C>T	GRCh37
NC_000013.9:g.110101341C>T	NCBI36
NG_042045.1:g.60188G>A
NG_042045.2:g.67609G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1054+41G>A MANE Select	NP_078813.1:n.1054+41G>A
ENST00000257347.9:c.1054+41G>A MANE Select	ENSP00000257347.4:n.1054+41G>A
NM_001352252.1:c.268+41G>A	NP_001339181.1:n.268+41G>A
NM_001352252.2:c.268+41G>A	NP_001339181.1:n.268+41G>A
NM_024537.2:c.1054+41G>A	NP_078813.1:n.1054+41G>A
NM_024537.3:c.1054+41G>A	NP_078813.1:n.1054+41G>A
NR_147941.1:n.1025+41G>A
NR_147942.1:n.1299+41G>A
NR_147942.2:n.1235+41G>A
ENST00000257347.8:c.1054+41G>A	ENSP00000257347.4:n.1054+41G>A
ENST00000375781.9:n.326-3754G>A
ENST00000481787.6:n.488+41G>A
ENST00000487253.6:c.135+41G>A
ENST00000535398.5:n.1246+41G>A
ENST00000535516.5:n.188G>A
ENST00000535615.5:n.338+41G>A
ENST00000537386.1:n.179-3754G>A
ENST00000537404.1:n.174+41G>A
ENST00000537802.5:n.358+41G>A
ENST00000539405.1:n.295G>A
ENST00000540006.5:n.478+41G>A
ENST00000541362.5:n.279-3754G>A
ENST00000543487.5:n.570+41G>A
ENST00000545506.5:n.399+41G>A
XM_006719953.2:c.715+41G>A	XP_006720016.1:n.715+41G>A
XM_006719953.3:c.715+41G>A	XP_006720016.1:n.715+41G>A
XM_011521114.1:c.1054+41G>A	XP_011519416.1:n.1054+41G>A
XM_011521115.1:c.715+41G>A	XP_011519417.1:n.715+41G>A
XM_011521116.1:c.709+41G>A	XP_011519418.1:n.709+41G>A
XM_011521120.1:c.268+41G>A	XP_011519422.1:n.268+41G>A
XM_017020741.1:c.715+41G>A	XP_016876230.1:n.715+41G>A
XM_017020742.2:c.988-3754G>A	XP_016876231.1:n.988-3754G>A
XM_024449409.1:c.268+41G>A	XP_024305177.1:n.268+41G>A
XR_001749664.2:n.1094+41G>A
XR_001749665.2:n.1094+41G>A
XR_001749666.2:n.1094+41G>A
XR_001749667.2:n.1094+41G>A
XR_001749668.2:n.1028-3754G>A
XR_002957472.1:n.1028-3754G>A
XR_243047.2:n.1077+41G>A
XR_243047.3:n.1094+41G>A
XR_243048.3:n.1077+41G>A
XR_243048.4:n.1094+41G>A
XR_243049.3:n.1077+41G>A
XR_243049.4:n.1094+41G>A
XR_243051.2:n.1011-3754G>A
XR_243051.3:n.1028-3754G>A