Canonical Allele Identifier: CA3623926

Gene: FARS2

Linked Data

• ClinVar Variation Id: 429663
• ClinVar RCV Id: RCV000493622 ; RCV001250393
• dbSNP Id: rs202183509
• ExAC: 6:5771562 G / A
• gnomAD v2: 6-5771562-G-A
• gnomAD v3: 6-5771329-G-A
• gnomAD v4: 6-5771329-G-A
• COSMIC: COSM1238855
• MyVariant Identifiers: chr6:g.5771562G>A (hg19) ; chr6:g.5771329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.5771329G>A , CM000668.2:g.5771329G>A	GRCh38
NC_000006.11:g.5771562G>A , CM000668.1:g.5771562G>A	GRCh37
NC_000006.10:g.5716561G>A	NCBI36
NG_033003.1:g.514979G>A
NG_033003.2:g.514979G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274680.9:c.1256G>A MANE Select	ENSP00000274680.4:p.Arg419His
ENST00000648580.1:c.1218-50379G>A	ENSP00000497889.1:n.1218-50379G>A
ENST00000274680.8:c.1256G>A	ENSP00000274680.3:p.Arg419His
ENST00000324331.10:c.1256G>A	ENSP00000316335.5:p.Arg419His
NM_006567.3:c.1256G>A	NP_006558.1:p.Arg419His
XM_005248811.1:c.1256G>A	XP_005248868.1:p.Arg419His
XM_005248812.2:c.1256G>A	XP_005248869.1:p.Arg419His
XR_926026.1:n.2230G>A
XR_926028.1:n.1719G>A
NM_001318872.1:c.1256G>A	NP_001305801.1:p.Arg419His
NM_006567.4:c.1256G>A	NP_006558.1:p.Arg419His
XM_005248812.3:c.1256G>A	XP_005248869.1:p.Arg419His
XM_017010186.1:c.1256G>A	XP_016865675.1:p.Arg419His
XM_017010187.1:c.1256G>A	XP_016865676.1:p.Arg419His
XR_926028.2:n.1696G>A
NM_001318872.2:c.1256G>A	NP_001305801.1:p.Arg419His
NM_001374875.1:c.1256G>A	NP_001361804.1:p.Arg419His
NM_001374876.1:c.1256G>A	NP_001361805.1:p.Arg419His
NM_001374877.1:c.1256G>A	NP_001361806.1:p.Arg419His
NM_001374878.1:c.1256G>A	NP_001361807.1:p.Arg419His
NM_001374879.1:c.1256G>A	NP_001361808.1:p.Arg419His
NM_001375257.1:c.1256G>A	NP_001362186.1:p.Arg419His
NM_001375258.1:c.1124G>A	NP_001362187.1:p.Arg375His
NM_001375259.1:c.560G>A	NP_001362188.1:p.Arg187His
NM_001375260.1:c.560G>A	NP_001362189.1:p.Arg187His
NM_006567.5:c.1256G>A MANE Select	NP_006558.1:p.Arg419His