Canonical Allele Identifier: CA448720631

Gene: FARS2

Linked Data

• ClinVar Variation Id: 2802988
• ClinVar RCV Id: RCV003649648
• dbSNP Id: rs1338383876
• gnomAD v2: 6-5369316-C-T
• gnomAD v4: 6-5369083-C-T
• MyVariant Identifiers: chr6:g.5369316C>T (hg19) ; chr6:g.5369083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.5369083C>T , CM000668.2:g.5369083C>T	GRCh38
NC_000006.11:g.5369316C>T , CM000668.1:g.5369316C>T	GRCh37
NC_000006.10:g.5314315C>T	NCBI36
NG_033003.1:g.112733C>T
NG_033003.2:g.112733C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274680.9:c.513C>T MANE Select	ENSP00000274680.4:p.Phe171=
ENST00000648580.1:c.513C>T	ENSP00000497889.1:p.Phe171=
ENST00000274680.8:c.513C>T	ENSP00000274680.3:p.Phe171=
ENST00000324331.10:c.513C>T	ENSP00000316335.5:p.Phe171=
NM_006567.3:c.513C>T	NP_006558.1:p.Phe171=
XM_005248811.1:c.513C>T	XP_005248868.1:p.Phe171=
XM_005248812.2:c.513C>T	XP_005248869.1:p.Phe171=
XM_006714966.1:c.513C>T	XP_006715029.1:p.Phe171=
XM_011514247.1:c.513C>T	XP_011512549.1:p.Phe171=
XM_011514248.1:c.513C>T	XP_011512550.1:p.Phe171=
XM_011514249.1:c.513C>T	XP_011512551.1:p.Phe171=
XM_011514250.1:c.513C>T	XP_011512552.1:p.Phe171=
XM_011514251.1:c.513C>T	XP_011512553.1:p.Phe171=
XR_926026.1:n.844C>T
XR_926027.1:n.844C>T
XR_926028.1:n.844C>T
NM_001318872.1:c.513C>T	NP_001305801.1:p.Phe171=
NM_006567.4:c.513C>T	NP_006558.1:p.Phe171=
XM_005248812.3:c.513C>T	XP_005248869.1:p.Phe171=
XM_006714966.3:c.513C>T	XP_006715029.1:p.Phe171=
XM_011514247.3:c.513C>T	XP_011512549.1:p.Phe171=
XM_011514248.3:c.513C>T	XP_011512550.1:p.Phe171=
XM_011514249.2:c.513C>T	XP_011512551.1:p.Phe171=
XM_011514251.3:c.513C>T	XP_011512553.1:p.Phe171=
XM_017010186.1:c.513C>T	XP_016865675.1:p.Phe171=
XM_017010187.1:c.513C>T	XP_016865676.1:p.Phe171=
XR_926027.3:n.821C>T
XR_926028.2:n.821C>T
NM_001318872.2:c.513C>T	NP_001305801.1:p.Phe171=
NM_001374875.1:c.513C>T	NP_001361804.1:p.Phe171=
NM_001374876.1:c.513C>T	NP_001361805.1:p.Phe171=
NM_001374877.1:c.513C>T	NP_001361806.1:p.Phe171=
NM_001374878.1:c.513C>T	NP_001361807.1:p.Phe171=
NM_001374879.1:c.513C>T	NP_001361808.1:p.Phe171=
NM_001375257.1:c.513C>T	NP_001362186.1:p.Phe171=
NM_001375258.1:c.513C>T	NP_001362187.1:p.Phe171=
NM_001375259.1:c.-84-35459C>T	NP_001362188.1:n.-84-35459C>T
NM_001375260.1:c.-340-27550C>T	NP_001362189.1:n.-340-27550C>T
NM_006567.5:c.513C>T MANE Select	NP_006558.1:p.Phe171=