Canonical Allele Identifier: CA362735613
Gene: FARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1433148
ClinVar RCV Id: RCV001982182
dbSNP Id: rs1232483392
gnomAD v2: 6-5369395-C-T
gnomAD v4: 6-5369162-C-T
COSMIC: COSM379367

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.5369162C>T , CM000668.2:g.5369162C>T GRCh38
NC_000006.11:g.5369395C>T , CM000668.1:g.5369395C>T GRCh37
NC_000006.10:g.5314394C>T NCBI36
NG_033003.1:g.112812C>T
NG_033003.2:g.112812C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274680.9:c.592C>T MANE Select ENSP00000274680.4:p.Arg198Trp
ENST00000648580.1:c.592C>T ENSP00000497889.1:p.Arg198Trp
ENST00000274680.8:c.592C>T ENSP00000274680.3:p.Arg198Trp
ENST00000324331.10:c.592C>T ENSP00000316335.5:p.Arg198Trp
NM_006567.3:c.592C>T NP_006558.1:p.Arg198Trp
XM_005248811.1:c.592C>T XP_005248868.1:p.Arg198Trp
XM_005248812.2:c.592C>T XP_005248869.1:p.Arg198Trp
XM_006714966.1:c.592C>T XP_006715029.1:p.Arg198Trp
XM_011514247.1:c.592C>T XP_011512549.1:p.Arg198Trp
XM_011514248.1:c.592C>T XP_011512550.1:p.Arg198Trp
XM_011514249.1:c.592C>T XP_011512551.1:p.Arg198Trp
XM_011514250.1:c.592C>T XP_011512552.1:p.Arg198Trp
XM_011514251.1:c.592C>T XP_011512553.1:p.Arg198Trp
XR_926026.1:n.923C>T
XR_926027.1:n.923C>T
XR_926028.1:n.923C>T
NM_001318872.1:c.592C>T NP_001305801.1:p.Arg198Trp
NM_006567.4:c.592C>T NP_006558.1:p.Arg198Trp
XM_005248812.3:c.592C>T XP_005248869.1:p.Arg198Trp
XM_006714966.3:c.592C>T XP_006715029.1:p.Arg198Trp
XM_011514247.3:c.592C>T XP_011512549.1:p.Arg198Trp
XM_011514248.3:c.592C>T XP_011512550.1:p.Arg198Trp
XM_011514249.2:c.592C>T XP_011512551.1:p.Arg198Trp
XM_011514251.3:c.592C>T XP_011512553.1:p.Arg198Trp
XM_017010186.1:c.592C>T XP_016865675.1:p.Arg198Trp
XM_017010187.1:c.592C>T XP_016865676.1:p.Arg198Trp
XR_926027.3:n.900C>T
XR_926028.2:n.900C>T
NM_001318872.2:c.592C>T NP_001305801.1:p.Arg198Trp
NM_001374875.1:c.592C>T NP_001361804.1:p.Arg198Trp
NM_001374876.1:c.592C>T NP_001361805.1:p.Arg198Trp
NM_001374877.1:c.592C>T NP_001361806.1:p.Arg198Trp
NM_001374878.1:c.592C>T NP_001361807.1:p.Arg198Trp
NM_001374879.1:c.592C>T NP_001361808.1:p.Arg198Trp
NM_001375257.1:c.592C>T NP_001362186.1:p.Arg198Trp
NM_001375258.1:c.592C>T NP_001362187.1:p.Arg198Trp
NM_001375259.1:c.-84-35380C>T NP_001362188.1:n.-84-35380C>T
NM_001375260.1:c.-340-27471C>T NP_001362189.1:n.-340-27471C>T
NM_006567.5:c.592C>T MANE Select NP_006558.1:p.Arg198Trp