Canonical Allele Identifier: CA256324928

Gene: CARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110646871C>G , CM000675.2:g.110646871C>G	GRCh38
NC_000013.10:g.111299218C>G , CM000675.1:g.111299218C>G	GRCh37
NC_000013.9:g.110097219C>G	NCBI36
NG_042045.1:g.64310G>C
NG_042045.2:g.71731G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024537.4:c.1193+230G>C MANE Select	NP_078813.1:n.1193+230G>C
ENST00000257347.9:c.1193+230G>C MANE Select	ENSP00000257347.4:n.1193+230G>C
NM_001352252.1:c.407+230G>C	NP_001339181.1:n.407+230G>C
NM_001352252.2:c.407+230G>C	NP_001339181.1:n.407+230G>C
NM_024537.2:c.1193+230G>C	NP_078813.1:n.1193+230G>C
NM_024537.3:c.1193+230G>C	NP_078813.1:n.1193+230G>C
NR_147941.1:n.1164+230G>C
NR_147942.1:n.1438+230G>C
NR_147942.2:n.1374+230G>C
ENST00000257347.8:c.1193+230G>C	ENSP00000257347.4:n.1193+230G>C
ENST00000375781.9:n.464+230G>C
ENST00000481787.6:n.627+230G>C
ENST00000487253.6:c.274+230G>C
ENST00000535398.5:n.1385+230G>C
ENST00000535516.5:n.913G>C
ENST00000535615.5:n.477+230G>C
ENST00000537386.1:n.547G>C
ENST00000537404.1:n.543G>C
ENST00000537802.5:n.1707G>C
ENST00000540006.5:n.617+230G>C
ENST00000541362.5:n.647G>C
ENST00000543487.5:n.709+230G>C
ENST00000545506.5:n.768G>C
ENST00000620794.1:c.15+230G>C
XM_006719953.2:c.854+230G>C	XP_006720016.1:n.854+230G>C
XM_006719953.3:c.854+230G>C	XP_006720016.1:n.854+230G>C
XM_011521114.1:c.1193+230G>C	XP_011519416.1:n.1193+230G>C
XM_011521115.1:c.854+230G>C	XP_011519417.1:n.854+230G>C
XM_011521116.1:c.848+230G>C	XP_011519418.1:n.848+230G>C
XM_011521120.1:c.407+230G>C	XP_011519422.1:n.407+230G>C
XM_017020741.1:c.854+230G>C	XP_016876230.1:n.854+230G>C
XM_017020742.2:c.*49+230G>C	XP_016876231.1:n.*49+230G>C
XM_024449409.1:c.407+230G>C	XP_024305177.1:n.407+230G>C
XR_001749664.2:n.1233+230G>C
XR_001749665.2:n.1233+230G>C
XR_001749666.2:n.1233+230G>C
XR_001749667.2:n.1233+230G>C
XR_001749668.2:n.1166+230G>C
XR_002957472.1:n.1396G>C
XR_243047.2:n.1216+230G>C
XR_243047.3:n.1233+230G>C
XR_243048.3:n.1216+230G>C
XR_243048.4:n.1233+230G>C
XR_243049.3:n.1216+230G>C
XR_243049.4:n.1233+230G>C
XR_243051.2:n.1149+230G>C
XR_243051.3:n.1166+230G>C