Canonical Allele Identifier: CA130596

Gene: FARS2

Linked Data

• ClinVar Variation Id: 39824
• ClinVar RCV Id: RCV000033044 ; RCV000162158 ; RCV000497519
• dbSNP Id: rs397514610
• gnomAD v4: 6-5369001-A-G
• MyVariant Identifiers: chr6:g.5369234A>G (hg19) ; chr6:g.5369001A>G (hg38)
• PubMed: PMID:22499341 ; PMID:22833457 ; PMID:25558065 ; PMID:27435318

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.5369001A>G , CM000668.2:g.5369001A>G	GRCh38
NC_000006.11:g.5369234A>G , CM000668.1:g.5369234A>G	GRCh37
NC_000006.10:g.5314233A>G	NCBI36
NG_033003.1:g.112651A>G
NG_033003.2:g.112651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274680.9:c.431A>G MANE Select	ENSP00000274680.4:p.Tyr144Cys
ENST00000648580.1:c.431A>G	ENSP00000497889.1:p.Tyr144Cys
ENST00000274680.8:c.431A>G	ENSP00000274680.3:p.Tyr144Cys
ENST00000324331.10:c.431A>G	ENSP00000316335.5:p.Tyr144Cys
NM_006567.3:c.431A>G	NP_006558.1:p.Tyr144Cys
XM_005248811.1:c.431A>G	XP_005248868.1:p.Tyr144Cys
XM_005248812.2:c.431A>G	XP_005248869.1:p.Tyr144Cys
XM_006714966.1:c.431A>G	XP_006715029.1:p.Tyr144Cys
XM_011514247.1:c.431A>G	XP_011512549.1:p.Tyr144Cys
XM_011514248.1:c.431A>G	XP_011512550.1:p.Tyr144Cys
XM_011514249.1:c.431A>G	XP_011512551.1:p.Tyr144Cys
XM_011514250.1:c.431A>G	XP_011512552.1:p.Tyr144Cys
XM_011514251.1:c.431A>G	XP_011512553.1:p.Tyr144Cys
XR_926026.1:n.762A>G
XR_926027.1:n.762A>G
XR_926028.1:n.762A>G
NM_001318872.1:c.431A>G	NP_001305801.1:p.Tyr144Cys
NM_006567.4:c.431A>G	NP_006558.1:p.Tyr144Cys
XM_005248812.3:c.431A>G	XP_005248869.1:p.Tyr144Cys
XM_006714966.3:c.431A>G	XP_006715029.1:p.Tyr144Cys
XM_011514247.3:c.431A>G	XP_011512549.1:p.Tyr144Cys
XM_011514248.3:c.431A>G	XP_011512550.1:p.Tyr144Cys
XM_011514249.2:c.431A>G	XP_011512551.1:p.Tyr144Cys
XM_011514251.3:c.431A>G	XP_011512553.1:p.Tyr144Cys
XM_017010186.1:c.431A>G	XP_016865675.1:p.Tyr144Cys
XM_017010187.1:c.431A>G	XP_016865676.1:p.Tyr144Cys
XR_926027.3:n.739A>G
XR_926028.2:n.739A>G
NM_001318872.2:c.431A>G	NP_001305801.1:p.Tyr144Cys
NM_001374875.1:c.431A>G	NP_001361804.1:p.Tyr144Cys
NM_001374876.1:c.431A>G	NP_001361805.1:p.Tyr144Cys
NM_001374877.1:c.431A>G	NP_001361806.1:p.Tyr144Cys
NM_001374878.1:c.431A>G	NP_001361807.1:p.Tyr144Cys
NM_001374879.1:c.431A>G	NP_001361808.1:p.Tyr144Cys
NM_001375257.1:c.431A>G	NP_001362186.1:p.Tyr144Cys
NM_001375258.1:c.431A>G	NP_001362187.1:p.Tyr144Cys
NM_001375259.1:c.-84-35541A>G	NP_001362188.1:n.-84-35541A>G
NM_001375260.1:c.-340-27632A>G	NP_001362189.1:n.-340-27632A>G
NM_006567.5:c.431A>G MANE Select	NP_006558.1:p.Tyr144Cys