Canonical Allele Identifier: CA362736998

Gene: FARS2

Linked Data

• gnomAD v4: 6-5613284-A-C
• MyVariant Identifiers: chr6:g.5613517A>C (hg19) ; chr6:g.5613284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.5613284A>C , CM000668.2:g.5613284A>C	GRCh38
NC_000006.11:g.5613517A>C , CM000668.1:g.5613517A>C	GRCh37
NC_000006.10:g.5558516A>C	NCBI36
NG_033003.1:g.356934A>C
NG_033003.2:g.356934A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274680.9:c.1181A>C MANE Select	ENSP00000274680.4:p.Glu394Ala
ENST00000648580.1:c.1181A>C	ENSP00000497889.1:p.Glu394Ala
ENST00000274680.8:c.1181A>C	ENSP00000274680.3:p.Glu394Ala
ENST00000324331.10:c.1181A>C	ENSP00000316335.5:p.Glu394Ala
NM_006567.3:c.1181A>C	NP_006558.1:p.Glu394Ala
XM_005248811.1:c.1181A>C	XP_005248868.1:p.Glu394Ala
XM_005248812.2:c.1181A>C	XP_005248869.1:p.Glu394Ala
XM_011514247.1:c.1181A>C	XP_011512549.1:p.Glu394Ala
XM_011514248.1:c.1181A>C	XP_011512550.1:p.Glu394Ala
XM_011514249.1:c.1181A>C	XP_011512551.1:p.Glu394Ala
XR_926026.1:n.2155A>C
XR_926028.1:n.1644A>C
NM_001318872.1:c.1181A>C	NP_001305801.1:p.Glu394Ala
NM_006567.4:c.1181A>C	NP_006558.1:p.Glu394Ala
XM_005248812.3:c.1181A>C	XP_005248869.1:p.Glu394Ala
XM_011514247.3:c.1181A>C	XP_011512549.1:p.Glu394Ala
XM_011514248.3:c.1181A>C	XP_011512550.1:p.Glu394Ala
XM_011514249.2:c.1181A>C	XP_011512551.1:p.Glu394Ala
XM_017010186.1:c.1181A>C	XP_016865675.1:p.Glu394Ala
XM_017010187.1:c.1181A>C	XP_016865676.1:p.Glu394Ala
XR_926028.2:n.1621A>C
NM_001318872.2:c.1181A>C	NP_001305801.1:p.Glu394Ala
NM_001374875.1:c.1181A>C	NP_001361804.1:p.Glu394Ala
NM_001374876.1:c.1181A>C	NP_001361805.1:p.Glu394Ala
NM_001374877.1:c.1181A>C	NP_001361806.1:p.Glu394Ala
NM_001374878.1:c.1181A>C	NP_001361807.1:p.Glu394Ala
NM_001374879.1:c.1181A>C	NP_001361808.1:p.Glu394Ala
NM_001375257.1:c.1181A>C	NP_001362186.1:p.Glu394Ala
NM_001375258.1:c.1049A>C	NP_001362187.1:p.Glu350Ala
NM_001375259.1:c.485A>C	NP_001362188.1:p.Glu162Ala
NM_001375260.1:c.485A>C	NP_001362189.1:p.Glu162Ala
NM_006567.5:c.1181A>C MANE Select	NP_006558.1:p.Glu394Ala