Canonical Allele Identifier: CA612866962

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110642306G>C , CM000675.2:g.110642306G>C	GRCh38
NC_000013.10:g.111294653G>C , CM000675.1:g.111294653G>C	GRCh37
NC_000013.9:g.110092654G>C	NCBI36
NG_042045.1:g.68875C>G
NG_042045.2:g.76296C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1623+9C>G MANE Select	NP_078813.1:n.1623+9C>G
ENST00000257347.9:c.1623+9C>G MANE Select	ENSP00000257347.4:n.1623+9C>G
NM_001352252.1:c.837+9C>G	NP_001339181.1:n.837+9C>G
NM_001352252.2:c.837+9C>G	NP_001339181.1:n.837+9C>G
NM_024537.2:c.1623+9C>G	NP_078813.1:n.1623+9C>G
NM_024537.3:c.1623+9C>G	NP_078813.1:n.1623+9C>G
NR_147941.1:n.1707+9C>G
NR_147942.1:n.2106+9C>G
NR_147942.2:n.2042+9C>G
ENST00000257347.8:c.1623+9C>G	ENSP00000257347.4:n.1623+9C>G
ENST00000375781.9:n.2555+9C>G
ENST00000481787.6:n.1057+9C>G
ENST00000487253.6:c.822+9C>G
ENST00000535516.5:n.2123+9C>G
ENST00000537802.5:n.3035+9C>G
ENST00000540006.5:n.1288+9C>G
ENST00000541239.5:n.3319+9C>G
ENST00000542774.5:n.622+9C>G
XM_006719953.2:c.1284+9C>G	XP_006720016.1:n.1284+9C>G
XM_006719953.3:c.1284+9C>G	XP_006720016.1:n.1284+9C>G
XM_011521115.1:c.1284+9C>G	XP_011519417.1:n.1284+9C>G
XM_011521116.1:c.1278+9C>G	XP_011519418.1:n.1278+9C>G
XM_011521120.1:c.837+9C>G	XP_011519422.1:n.837+9C>G
XM_017020741.1:c.1284+9C>G	XP_016876230.1:n.1284+9C>G
XM_024449409.1:c.837+9C>G	XP_024305177.1:n.837+9C>G
XR_001749664.2:n.2322+9C>G
XR_002957472.1:n.2729+9C>G
XR_243047.2:n.1764+9C>G
XR_243047.3:n.1781+9C>G
XR_243048.3:n.1769+9C>G
XR_243048.4:n.1786+9C>G
XR_243049.3:n.1887+9C>G
XR_243049.4:n.1904+9C>G
XR_243051.2:n.1579+9C>G
XR_243051.3:n.1596+9C>G