Canonical Allele Identifier: CA362735608

Gene: FARS2

Linked Data

• gnomAD v4: 6-5369159-G-T
• COSMIC: COSM6203662
• MyVariant Identifiers: chr6:g.5369392G>T (hg19) ; chr6:g.5369159G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.5369159G>T , CM000668.2:g.5369159G>T	GRCh38
NC_000006.11:g.5369392G>T , CM000668.1:g.5369392G>T	GRCh37
NC_000006.10:g.5314391G>T	NCBI36
NG_033003.1:g.112809G>T
NG_033003.2:g.112809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274680.9:c.589G>T MANE Select	ENSP00000274680.4:p.Val197Leu
ENST00000648580.1:c.589G>T	ENSP00000497889.1:p.Val197Leu
ENST00000274680.8:c.589G>T	ENSP00000274680.3:p.Val197Leu
ENST00000324331.10:c.589G>T	ENSP00000316335.5:p.Val197Leu
NM_006567.3:c.589G>T	NP_006558.1:p.Val197Leu
XM_005248811.1:c.589G>T	XP_005248868.1:p.Val197Leu
XM_005248812.2:c.589G>T	XP_005248869.1:p.Val197Leu
XM_006714966.1:c.589G>T	XP_006715029.1:p.Val197Leu
XM_011514247.1:c.589G>T	XP_011512549.1:p.Val197Leu
XM_011514248.1:c.589G>T	XP_011512550.1:p.Val197Leu
XM_011514249.1:c.589G>T	XP_011512551.1:p.Val197Leu
XM_011514250.1:c.589G>T	XP_011512552.1:p.Val197Leu
XM_011514251.1:c.589G>T	XP_011512553.1:p.Val197Leu
XR_926026.1:n.920G>T
XR_926027.1:n.920G>T
XR_926028.1:n.920G>T
NM_001318872.1:c.589G>T	NP_001305801.1:p.Val197Leu
NM_006567.4:c.589G>T	NP_006558.1:p.Val197Leu
XM_005248812.3:c.589G>T	XP_005248869.1:p.Val197Leu
XM_006714966.3:c.589G>T	XP_006715029.1:p.Val197Leu
XM_011514247.3:c.589G>T	XP_011512549.1:p.Val197Leu
XM_011514248.3:c.589G>T	XP_011512550.1:p.Val197Leu
XM_011514249.2:c.589G>T	XP_011512551.1:p.Val197Leu
XM_011514251.3:c.589G>T	XP_011512553.1:p.Val197Leu
XM_017010186.1:c.589G>T	XP_016865675.1:p.Val197Leu
XM_017010187.1:c.589G>T	XP_016865676.1:p.Val197Leu
XR_926027.3:n.897G>T
XR_926028.2:n.897G>T
NM_001318872.2:c.589G>T	NP_001305801.1:p.Val197Leu
NM_001374875.1:c.589G>T	NP_001361804.1:p.Val197Leu
NM_001374876.1:c.589G>T	NP_001361805.1:p.Val197Leu
NM_001374877.1:c.589G>T	NP_001361806.1:p.Val197Leu
NM_001374878.1:c.589G>T	NP_001361807.1:p.Val197Leu
NM_001374879.1:c.589G>T	NP_001361808.1:p.Val197Leu
NM_001375257.1:c.589G>T	NP_001362186.1:p.Val197Leu
NM_001375258.1:c.589G>T	NP_001362187.1:p.Val197Leu
NM_001375259.1:c.-84-35383G>T	NP_001362188.1:n.-84-35383G>T
NM_001375260.1:c.-340-27474G>T	NP_001362189.1:n.-340-27474G>T
NM_006567.5:c.589G>T MANE Select	NP_006558.1:p.Val197Leu