Canonical Allele Identifier: CA7052400

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110705969C>G , CM000675.2:g.110705969C>G	GRCh38
NC_000013.10:g.111358316C>G , CM000675.1:g.111358316C>G	GRCh37
NC_000013.9:g.110156317C>G	NCBI36
NG_042045.1:g.5212G>C
NG_042045.2:g.12633G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.125G>C MANE Select	NP_078813.1:p.Trp42Ser
ENST00000257347.9:c.125G>C MANE Select	ENSP00000257347.4:p.Trp42Ser
NM_001352252.1:c.-775-398G>C	NP_001339181.1:n.-775-398G>C
NM_001352252.2:c.-775-398G>C	NP_001339181.1:n.-775-398G>C
NM_001352253.1:c.125G>C	NP_001339182.1:p.Trp42Ser
NM_001352253.2:c.125G>C	NP_001339182.1:p.Trp42Ser
NM_001352253.3:c.125G>C	NP_001339182.1:p.Trp42Ser
NM_024537.2:c.125G>C	NP_078813.1:p.Trp42Ser
NM_024537.3:c.125G>C	NP_078813.1:p.Trp42Ser
NR_147941.1:n.146-398G>C
NR_147942.1:n.212G>C
NR_147942.2:n.148G>C
ENST00000257347.8:c.125G>C	ENSP00000257347.4:p.Trp42Ser
ENST00000465145.5:n.100-398G>C
ENST00000485188.1:n.706-398G>C
ENST00000535398.5:n.468-4414G>C
ENST00000537394.5:c.125G>C	ENSP00000437962.1:p.Trp42Ser
ENST00000537412.5:n.466-398G>C
ENST00000539269.5:c.85G>C
ENST00000540629.5:n.256-398G>C
ENST00000541443.5:n.136-398G>C
ENST00000542126.5:n.221-398G>C
ENST00000544488.5:n.386+7168G>C
XM_006719953.2:c.-115-398G>C	XP_006720016.1:n.-115-398G>C
XM_006719953.3:c.-115-398G>C	XP_006720016.1:n.-115-398G>C
XM_011521114.1:c.125G>C	XP_011519416.1:p.Trp42Ser
XM_011521115.1:c.-115-398G>C	XP_011519417.1:n.-115-398G>C
XM_011521116.1:c.-271G>C	XP_011519418.1:n.-271G>C
XM_011521117.1:c.125G>C	XP_011519419.1:p.Trp42Ser
XM_011521117.3:c.125G>C	XP_011519419.1:p.Trp42Ser
XM_011521118.1:c.125G>C	XP_011519420.1:p.Trp42Ser
XM_011521118.3:c.125G>C	XP_011519420.1:p.Trp42Ser
XM_011521119.1:c.125G>C	XP_011519421.1:p.Trp42Ser
XM_011521120.1:c.-384-398G>C	XP_011519422.1:n.-384-398G>C
XM_017020741.1:c.-64-4414G>C	XP_016876230.1:n.-64-4414G>C
XM_017020742.2:c.125G>C	XP_016876231.1:p.Trp42Ser
XM_024449409.1:c.-484G>C	XP_024305177.1:n.-484G>C
XR_001749664.2:n.165G>C
XR_001749665.2:n.165G>C
XR_001749666.2:n.165G>C
XR_001749667.2:n.165G>C
XR_001749668.2:n.165G>C
XR_002957472.1:n.165G>C
XR_243047.2:n.148G>C
XR_243047.3:n.165G>C
XR_243048.3:n.148G>C
XR_243048.4:n.165G>C
XR_243049.3:n.148G>C
XR_243049.4:n.165G>C
XR_243051.2:n.148G>C
XR_243051.3:n.165G>C