Canonical Allele Identifier: CA362735445
Gene: FARS2 HGNC NCBI

Linked Data

gnomAD v4: 6-5369084-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.5369084C>G , CM000668.2:g.5369084C>G GRCh38
NC_000006.11:g.5369317C>G , CM000668.1:g.5369317C>G GRCh37
NC_000006.10:g.5314316C>G NCBI36
NG_033003.1:g.112734C>G
NG_033003.2:g.112734C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274680.9:c.514C>G MANE Select ENSP00000274680.4:p.Leu172Val
ENST00000648580.1:c.514C>G ENSP00000497889.1:p.Leu172Val
ENST00000274680.8:c.514C>G ENSP00000274680.3:p.Leu172Val
ENST00000324331.10:c.514C>G ENSP00000316335.5:p.Leu172Val
NM_006567.3:c.514C>G NP_006558.1:p.Leu172Val
XM_005248811.1:c.514C>G XP_005248868.1:p.Leu172Val
XM_005248812.2:c.514C>G XP_005248869.1:p.Leu172Val
XM_006714966.1:c.514C>G XP_006715029.1:p.Leu172Val
XM_011514247.1:c.514C>G XP_011512549.1:p.Leu172Val
XM_011514248.1:c.514C>G XP_011512550.1:p.Leu172Val
XM_011514249.1:c.514C>G XP_011512551.1:p.Leu172Val
XM_011514250.1:c.514C>G XP_011512552.1:p.Leu172Val
XM_011514251.1:c.514C>G XP_011512553.1:p.Leu172Val
XR_926026.1:n.845C>G
XR_926027.1:n.845C>G
XR_926028.1:n.845C>G
NM_001318872.1:c.514C>G NP_001305801.1:p.Leu172Val
NM_006567.4:c.514C>G NP_006558.1:p.Leu172Val
XM_005248812.3:c.514C>G XP_005248869.1:p.Leu172Val
XM_006714966.3:c.514C>G XP_006715029.1:p.Leu172Val
XM_011514247.3:c.514C>G XP_011512549.1:p.Leu172Val
XM_011514248.3:c.514C>G XP_011512550.1:p.Leu172Val
XM_011514249.2:c.514C>G XP_011512551.1:p.Leu172Val
XM_011514251.3:c.514C>G XP_011512553.1:p.Leu172Val
XM_017010186.1:c.514C>G XP_016865675.1:p.Leu172Val
XM_017010187.1:c.514C>G XP_016865676.1:p.Leu172Val
XR_926027.3:n.822C>G
XR_926028.2:n.822C>G
NM_001318872.2:c.514C>G NP_001305801.1:p.Leu172Val
NM_001374875.1:c.514C>G NP_001361804.1:p.Leu172Val
NM_001374876.1:c.514C>G NP_001361805.1:p.Leu172Val
NM_001374877.1:c.514C>G NP_001361806.1:p.Leu172Val
NM_001374878.1:c.514C>G NP_001361807.1:p.Leu172Val
NM_001374879.1:c.514C>G NP_001361808.1:p.Leu172Val
NM_001375257.1:c.514C>G NP_001362186.1:p.Leu172Val
NM_001375258.1:c.514C>G NP_001362187.1:p.Leu172Val
NM_001375259.1:c.-84-35458C>G NP_001362188.1:n.-84-35458C>G
NM_001375260.1:c.-340-27549C>G NP_001362189.1:n.-340-27549C>G
NM_006567.5:c.514C>G MANE Select NP_006558.1:p.Leu172Val