Canonical Allele Identifier: CA484814947

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110645972G>A , CM000675.2:g.110645972G>A	GRCh38
NC_000013.10:g.111298319G>A , CM000675.1:g.111298319G>A	GRCh37
NC_000013.9:g.110096320G>A	NCBI36
NG_042045.1:g.65209C>T
NG_042045.2:g.72630C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1312C>T MANE Select	NP_078813.1:p.Leu438=
ENST00000257347.9:c.1312C>T MANE Select	ENSP00000257347.4:p.Leu438=
NM_001352252.1:c.526C>T	NP_001339181.1:p.Leu176=
NM_001352252.2:c.526C>T	NP_001339181.1:p.Leu176=
NM_024537.2:c.1312C>T	NP_078813.1:p.Leu438=
NM_024537.3:c.1312C>T	NP_078813.1:p.Leu438=
NR_147941.1:n.1283C>T
NR_147942.1:n.1557C>T
NR_147942.2:n.1493C>T
ENST00000257347.8:c.1312C>T	ENSP00000257347.4:p.Leu438=
ENST00000375781.9:n.583C>T
ENST00000471986.2:n.102C>T
ENST00000480437.5:n.307C>T
ENST00000481787.6:n.746C>T
ENST00000487253.6:c.393C>T
ENST00000535398.5:n.1631C>T
ENST00000535516.5:n.1812C>T
ENST00000535615.5:n.596C>T
ENST00000537802.5:n.2606C>T
ENST00000540006.5:n.736C>T
ENST00000540215.1:n.405C>T
ENST00000543487.5:n.828C>T
ENST00000620794.1:c.134C>T
XM_006719953.2:c.973C>T	XP_006720016.1:p.Leu325=
XM_006719953.3:c.973C>T	XP_006720016.1:p.Leu325=
XM_011521115.1:c.973C>T	XP_011519417.1:p.Leu325=
XM_011521116.1:c.967C>T	XP_011519418.1:p.Leu323=
XM_011521120.1:c.526C>T	XP_011519422.1:p.Leu176=
XM_017020741.1:c.973C>T	XP_016876230.1:p.Leu325=
XM_024449409.1:c.526C>T	XP_024305177.1:p.Leu176=
XR_001749664.2:n.1893C>T
XR_001749665.2:n.1893C>T
XR_001749666.2:n.1893C>T
XR_001749667.2:n.1352C>T
XR_001749668.2:n.1285C>T
XR_002957472.1:n.2295C>T
XR_243047.2:n.1335C>T
XR_243047.3:n.1352C>T
XR_243048.3:n.1335C>T
XR_243048.4:n.1352C>T
XR_243049.3:n.1335C>T
XR_243049.4:n.1352C>T
XR_243051.2:n.1268C>T
XR_243051.3:n.1285C>T