Canonical Allele Identifier: CA7052111

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110677102C>T , CM000675.2:g.110677102C>T	GRCh38
NC_000013.10:g.111329449C>T , CM000675.1:g.111329449C>T	GRCh37
NC_000013.9:g.110127450C>T	NCBI36
NG_042045.1:g.34079G>A
NG_042045.2:g.41500G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.657G>A MANE Select	NP_078813.1:p.Ala219=
ENST00000257347.9:c.657G>A MANE Select	ENSP00000257347.4:p.Ala219=
NM_001352252.1:c.-130G>A	NP_001339181.1:n.-130G>A
NM_001352252.2:c.-130G>A	NP_001339181.1:n.-130G>A
NM_001352253.1:c.657G>A	NP_001339182.1:p.Ala219=
NM_001352253.2:c.657G>A	NP_001339182.1:p.Ala219=
NM_001352253.3:c.657G>A	NP_001339182.1:p.Ala219=
NM_024537.2:c.657G>A	NP_078813.1:p.Ala219=
NM_024537.3:c.657G>A	NP_078813.1:p.Ala219=
NR_147941.1:n.628G>A
NR_147942.1:n.744G>A
NR_147942.2:n.680G>A
ENST00000257347.8:c.657G>A	ENSP00000257347.4:p.Ala219=
ENST00000465145.5:n.582G>A
ENST00000481787.6:n.91G>A
ENST00000535398.5:n.849G>A
ENST00000539269.5:c.667G>A
ENST00000541443.5:n.568G>A
ENST00000543487.5:n.173G>A
ENST00000544488.5:n.472G>A
XM_006719953.2:c.318G>A	XP_006720016.1:p.Ala106=
XM_006719953.3:c.318G>A	XP_006720016.1:p.Ala106=
XM_011521114.1:c.657G>A	XP_011519416.1:p.Ala219=
XM_011521115.1:c.318G>A	XP_011519417.1:p.Ala106=
XM_011521116.1:c.312G>A	XP_011519418.1:p.Ala104=
XM_011521117.1:c.657G>A	XP_011519419.1:p.Ala219=
XM_011521117.3:c.657G>A	XP_011519419.1:p.Ala219=
XM_011521118.1:c.657G>A	XP_011519420.1:p.Ala219=
XM_011521118.3:c.657G>A	XP_011519420.1:p.Ala219=
XM_011521119.1:c.657G>A	XP_011519421.1:p.Ala219=
XM_011521120.1:c.-130G>A	XP_011519422.1:n.-130G>A
XM_017020741.1:c.318G>A	XP_016876230.1:p.Ala106=
XM_017020742.2:c.657G>A	XP_016876231.1:p.Ala219=
XM_024449409.1:c.-130G>A	XP_024305177.1:n.-130G>A
XR_001749664.2:n.697G>A
XR_001749665.2:n.697G>A
XR_001749666.2:n.697G>A
XR_001749667.2:n.697G>A
XR_001749668.2:n.697G>A
XR_002957472.1:n.697G>A
XR_243047.2:n.680G>A
XR_243047.3:n.697G>A
XR_243048.3:n.680G>A
XR_243048.4:n.697G>A
XR_243049.3:n.680G>A
XR_243049.4:n.697G>A
XR_243051.2:n.680G>A
XR_243051.3:n.697G>A