Canonical Allele Identifier: CA130597
Gene: FARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39825
ClinVar RCV Id: RCV000033045
dbSNP Id: rs397514611
gnomAD v2: 6-5545494-T-C
gnomAD v4: 6-5545261-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.5545261T>C , CM000668.2:g.5545261T>C GRCh38
NC_000006.11:g.5545494T>C , CM000668.1:g.5545494T>C GRCh37
NC_000006.10:g.5490493T>C NCBI36
NG_033003.1:g.288911T>C
NG_033003.2:g.288911T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274680.9:c.986T>C MANE Select ENSP00000274680.4:p.Ile329Thr
ENST00000648580.1:c.986T>C ENSP00000497889.1:p.Ile329Thr
ENST00000274680.8:c.986T>C ENSP00000274680.3:p.Ile329Thr
ENST00000324331.10:c.986T>C ENSP00000316335.5:p.Ile329Thr
NM_006567.3:c.986T>C NP_006558.1:p.Ile329Thr
XM_005248811.1:c.986T>C XP_005248868.1:p.Ile329Thr
XM_005248812.2:c.986T>C XP_005248869.1:p.Ile329Thr
XM_011514247.1:c.986T>C XP_011512549.1:p.Ile329Thr
XM_011514248.1:c.986T>C XP_011512550.1:p.Ile329Thr
XM_011514249.1:c.986T>C XP_011512551.1:p.Ile329Thr
XR_926026.1:n.1960T>C
XR_926028.1:n.1449T>C
NM_001318872.1:c.986T>C NP_001305801.1:p.Ile329Thr
NM_006567.4:c.986T>C NP_006558.1:p.Ile329Thr
XM_005248812.3:c.986T>C XP_005248869.1:p.Ile329Thr
XM_011514247.3:c.986T>C XP_011512549.1:p.Ile329Thr
XM_011514248.3:c.986T>C XP_011512550.1:p.Ile329Thr
XM_011514249.2:c.986T>C XP_011512551.1:p.Ile329Thr
XM_017010186.1:c.986T>C XP_016865675.1:p.Ile329Thr
XM_017010187.1:c.986T>C XP_016865676.1:p.Ile329Thr
XR_926028.2:n.1426T>C
NM_001318872.2:c.986T>C NP_001305801.1:p.Ile329Thr
NM_001374875.1:c.986T>C NP_001361804.1:p.Ile329Thr
NM_001374876.1:c.986T>C NP_001361805.1:p.Ile329Thr
NM_001374877.1:c.986T>C NP_001361806.1:p.Ile329Thr
NM_001374878.1:c.986T>C NP_001361807.1:p.Ile329Thr
NM_001374879.1:c.986T>C NP_001361808.1:p.Ile329Thr
NM_001375257.1:c.986T>C NP_001362186.1:p.Ile329Thr
NM_001375258.1:c.854T>C NP_001362187.1:p.Ile285Thr
NM_001375259.1:c.290T>C NP_001362188.1:p.Ile97Thr
NM_001375260.1:c.290T>C NP_001362189.1:p.Ile97Thr
NM_006567.5:c.986T>C MANE Select NP_006558.1:p.Ile329Thr