Canonical Allele Identifier: CA7051606

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110642372C>T , CM000675.2:g.110642372C>T	GRCh38
NC_000013.10:g.111294719C>T , CM000675.1:g.111294719C>T	GRCh37
NC_000013.9:g.110092720C>T	NCBI36
NG_042045.1:g.68809G>A
NG_042045.2:g.76230G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1566G>A MANE Select	NP_078813.1:p.Leu522=
ENST00000257347.9:c.1566G>A MANE Select	ENSP00000257347.4:p.Leu522=
NM_001352252.1:c.780G>A	NP_001339181.1:p.Leu260=
NM_001352252.2:c.780G>A	NP_001339181.1:p.Leu260=
NM_024537.2:c.1566G>A	NP_078813.1:p.Leu522=
NM_024537.3:c.1566G>A	NP_078813.1:p.Leu522=
NR_147941.1:n.1650G>A
NR_147942.1:n.2049G>A
NR_147942.2:n.1985G>A
ENST00000257347.8:c.1566G>A	ENSP00000257347.4:p.Leu522=
ENST00000375781.9:n.2498G>A
ENST00000481787.6:n.1000G>A
ENST00000487253.6:c.765G>A
ENST00000535516.5:n.2066G>A
ENST00000537802.5:n.2978G>A
ENST00000540006.5:n.1231G>A
ENST00000541239.5:n.3262G>A
ENST00000542774.5:n.565G>A
XM_006719953.2:c.1227G>A	XP_006720016.1:p.Leu409=
XM_006719953.3:c.1227G>A	XP_006720016.1:p.Leu409=
XM_011521115.1:c.1227G>A	XP_011519417.1:p.Leu409=
XM_011521116.1:c.1221G>A	XP_011519418.1:p.Leu407=
XM_011521120.1:c.780G>A	XP_011519422.1:p.Leu260=
XM_017020741.1:c.1227G>A	XP_016876230.1:p.Leu409=
XM_024449409.1:c.780G>A	XP_024305177.1:p.Leu260=
XR_001749664.2:n.2265G>A
XR_002957472.1:n.2672G>A
XR_243047.2:n.1707G>A
XR_243047.3:n.1724G>A
XR_243048.3:n.1712G>A
XR_243048.4:n.1729G>A
XR_243049.3:n.1830G>A
XR_243049.4:n.1847G>A
XR_243051.2:n.1522G>A
XR_243051.3:n.1539G>A