Canonical Allele Identifier: CA3623898

Gene: FARS2

Linked Data

• dbSNP Id: rs745342716
• ExAC: 6:5613496 C / A
• gnomAD v2: 6-5613496-C-A
• MyVariant Identifiers: chr6:g.5613496C>A (hg19) ; chr6:g.5613263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.5613263C>A , CM000668.2:g.5613263C>A	GRCh38
NC_000006.11:g.5613496C>A , CM000668.1:g.5613496C>A	GRCh37
NC_000006.10:g.5558495C>A	NCBI36
NG_033003.1:g.356913C>A
NG_033003.2:g.356913C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274680.9:c.1160C>A MANE Select	ENSP00000274680.4:p.Thr387Lys
ENST00000648580.1:c.1160C>A	ENSP00000497889.1:p.Thr387Lys
ENST00000274680.8:c.1160C>A	ENSP00000274680.3:p.Thr387Lys
ENST00000324331.10:c.1160C>A	ENSP00000316335.5:p.Thr387Lys
NM_006567.3:c.1160C>A	NP_006558.1:p.Thr387Lys
XM_005248811.1:c.1160C>A	XP_005248868.1:p.Thr387Lys
XM_005248812.2:c.1160C>A	XP_005248869.1:p.Thr387Lys
XM_011514247.1:c.1160C>A	XP_011512549.1:p.Thr387Lys
XM_011514248.1:c.1160C>A	XP_011512550.1:p.Thr387Lys
XM_011514249.1:c.1160C>A	XP_011512551.1:p.Thr387Lys
XR_926026.1:n.2134C>A
XR_926028.1:n.1623C>A
NM_001318872.1:c.1160C>A	NP_001305801.1:p.Thr387Lys
NM_006567.4:c.1160C>A	NP_006558.1:p.Thr387Lys
XM_005248812.3:c.1160C>A	XP_005248869.1:p.Thr387Lys
XM_011514247.3:c.1160C>A	XP_011512549.1:p.Thr387Lys
XM_011514248.3:c.1160C>A	XP_011512550.1:p.Thr387Lys
XM_011514249.2:c.1160C>A	XP_011512551.1:p.Thr387Lys
XM_017010186.1:c.1160C>A	XP_016865675.1:p.Thr387Lys
XM_017010187.1:c.1160C>A	XP_016865676.1:p.Thr387Lys
XR_926028.2:n.1600C>A
NM_001318872.2:c.1160C>A	NP_001305801.1:p.Thr387Lys
NM_001374875.1:c.1160C>A	NP_001361804.1:p.Thr387Lys
NM_001374876.1:c.1160C>A	NP_001361805.1:p.Thr387Lys
NM_001374877.1:c.1160C>A	NP_001361806.1:p.Thr387Lys
NM_001374878.1:c.1160C>A	NP_001361807.1:p.Thr387Lys
NM_001374879.1:c.1160C>A	NP_001361808.1:p.Thr387Lys
NM_001375257.1:c.1160C>A	NP_001362186.1:p.Thr387Lys
NM_001375258.1:c.1028C>A	NP_001362187.1:p.Thr343Lys
NM_001375259.1:c.464C>A	NP_001362188.1:p.Thr155Lys
NM_001375260.1:c.464C>A	NP_001362189.1:p.Thr155Lys
NM_006567.5:c.1160C>A MANE Select	NP_006558.1:p.Thr387Lys