Canonical Allele Identifier: CA7051657

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110642506C>T , CM000675.2:g.110642506C>T	GRCh38
NC_000013.10:g.111294853C>T , CM000675.1:g.111294853C>T	GRCh37
NC_000013.9:g.110092854C>T	NCBI36
NG_042045.1:g.68675G>A
NG_042045.2:g.76096G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1432G>A MANE Select	NP_078813.1:p.Gly478Ser
ENST00000257347.9:c.1432G>A MANE Select	ENSP00000257347.4:p.Gly478Ser
NM_001352252.1:c.646G>A	NP_001339181.1:p.Gly216Ser
NM_001352252.2:c.646G>A	NP_001339181.1:p.Gly216Ser
NM_024537.2:c.1432G>A	NP_078813.1:p.Gly478Ser
NM_024537.3:c.1432G>A	NP_078813.1:p.Gly478Ser
NR_147941.1:n.1516G>A
NR_147942.1:n.1915G>A
NR_147942.2:n.1851G>A
ENST00000257347.8:c.1432G>A	ENSP00000257347.4:p.Gly478Ser
ENST00000375781.9:n.2364G>A
ENST00000471986.2:n.108-9G>A
ENST00000480437.5:n.427G>A
ENST00000481787.6:n.866G>A
ENST00000487253.6:c.631G>A
ENST00000535516.5:n.1932G>A
ENST00000537802.5:n.2844G>A
ENST00000540006.5:n.1097G>A
ENST00000541239.5:n.3128G>A
ENST00000542774.5:n.431G>A
XM_006719953.2:c.1093G>A	XP_006720016.1:p.Gly365Ser
XM_006719953.3:c.1093G>A	XP_006720016.1:p.Gly365Ser
XM_011521115.1:c.1093G>A	XP_011519417.1:p.Gly365Ser
XM_011521116.1:c.1087G>A	XP_011519418.1:p.Gly363Ser
XM_011521120.1:c.646G>A	XP_011519422.1:p.Gly216Ser
XM_017020741.1:c.1093G>A	XP_016876230.1:p.Gly365Ser
XM_024449409.1:c.646G>A	XP_024305177.1:p.Gly216Ser
XR_001749664.2:n.2131G>A
XR_001749665.2:n.2013G>A
XR_002957472.1:n.2538G>A
XR_243047.2:n.1573G>A
XR_243047.3:n.1590G>A
XR_243048.3:n.1578G>A
XR_243048.4:n.1595G>A
XR_243049.3:n.1696G>A
XR_243049.4:n.1713G>A
XR_243051.2:n.1388G>A
XR_243051.3:n.1405G>A