Canonical Allele Identifier: CA16606640

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110667404G>A , CM000675.2:g.110667404G>A	GRCh38
NC_000013.10:g.111319751G>A , CM000675.1:g.111319751G>A	GRCh37
NC_000013.9:g.110117752G>A	NCBI36
NG_042045.1:g.43777C>T
NG_042045.2:g.51198C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257347.9:c.855C>T MANE Select	ENSP00000257347.4:p.Asn285=
ENST00000257347.8:c.855C>T	ENSP00000257347.4:p.Asn285=
ENST00000481787.6:n.289C>T
ENST00000535398.5:n.1047C>T
ENST00000537743.1:c.121C>T
ENST00000539405.1:n.55C>T
ENST00000543487.5:n.371C>T
NM_024537.2:c.855C>T	NP_078813.1:p.Asn285=
NM_024537.3:c.855C>T	NP_078813.1:p.Asn285=
XM_006719953.2:c.516C>T	XP_006720016.1:p.Asn172=
XM_011521114.1:c.855C>T	XP_011519416.1:p.Asn285=
XM_011521115.1:c.516C>T	XP_011519417.1:p.Asn172=
XM_011521116.1:c.510C>T	XP_011519418.1:p.Asn170=
XM_011521117.1:c.855C>T	XP_011519419.1:p.Asn285=
XM_011521118.1:c.855C>T	XP_011519420.1:p.Asn285=
XM_011521119.1:c.855C>T	XP_011519421.1:p.Asn285=
XM_011521120.1:c.69C>T	XP_011519422.1:p.Asn23=
XR_243047.2:n.878C>T
XR_243048.3:n.878C>T
XR_243049.3:n.878C>T
XR_243051.2:n.878C>T
NM_001352252.1:c.69C>T	NP_001339181.1:p.Asn23=
NM_001352253.1:c.855C>T	NP_001339182.1:p.Asn285=
NR_147941.1:n.826C>T
NR_147942.1:n.942C>T
XM_006719953.3:c.516C>T	XP_006720016.1:p.Asn172=
XM_011521117.3:c.855C>T	XP_011519419.1:p.Asn285=
XM_011521118.3:c.855C>T	XP_011519420.1:p.Asn285=
XM_017020741.1:c.516C>T	XP_016876230.1:p.Asn172=
XM_017020742.2:c.855C>T	XP_016876231.1:p.Asn285=
XM_024449409.1:c.69C>T	XP_024305177.1:p.Asn23=
XR_001749664.2:n.895C>T
XR_001749665.2:n.895C>T
XR_001749666.2:n.895C>T
XR_001749667.2:n.895C>T
XR_001749668.2:n.895C>T
XR_002957472.1:n.895C>T
XR_243047.3:n.895C>T
XR_243048.4:n.895C>T
XR_243049.4:n.895C>T
XR_243051.3:n.895C>T
NM_024537.4:c.855C>T MANE Select	NP_078813.1:p.Asn285=
NM_001352253.2:c.855C>T	NP_001339182.1:p.Asn285=
NR_147942.2:n.878C>T
NM_001352252.2:c.69C>T	NP_001339181.1:p.Asn23=
NM_001352253.3:c.855C>T	NP_001339182.1:p.Asn285=