Canonical Allele Identifier: CA446804420
Gene: HARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140695810C>T , CM000667.2:g.140695810C>T GRCh38
NC_000005.9:g.140075395C>T , CM000667.1:g.140075395C>T GRCh37
NC_000005.8:g.140055579C>T NCBI36
NG_021415.1:g.9378C>T
NG_032158.1:g.577G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230771.9:c.598C>T MANE Select ENSP00000230771.3:p.Leu200=
ENST00000503873.6:c.376C>T ENSP00000424516.2:p.Leu126=
ENST00000509299.6:c.388C>T ENSP00000425695.2:p.Leu130=
ENST00000520095.6:c.*176C>T ENSP00000429220.1:n.*176C>T
ENST00000642452.1:c.564C>T
ENST00000642752.1:c.598C>T ENSP00000493630.1:p.Leu200=
ENST00000642970.1:c.388C>T ENSP00000496011.1:p.Leu130=
ENST00000643996.1:c.388C>T ENSP00000495350.1:p.Leu130=
ENST00000645065.1:c.616C>T ENSP00000493571.1:p.Leu206=
ENST00000645749.1:c.598C>T ENSP00000494296.1:p.Leu200=
ENST00000646468.1:c.616C>T ENSP00000494965.1:p.Leu206=
ENST00000647484.1:c.388C>T ENSP00000494140.1:p.Leu130=
ENST00000230771.7:c.598C>T ENSP00000230771.3:p.Leu200=
ENST00000448069.2:c.181C>T ENSP00000407105.2:p.Leu61=
ENST00000508522.5:c.523C>T ENSP00000423616.1:p.Leu175=
ENST00000510104.5:c.*398C>T ENSP00000423530.1:n.*398C>T
ENST00000513688.1:n.605C>T
NM_001278731.1:c.523C>T NP_001265660.1:p.Leu175=
NM_001278732.1:c.166C>T NP_001265661.1:p.Leu56=
NM_012208.3:c.598C>T NP_036340.1:p.Leu200=
XM_011537619.1:c.616C>T XP_011535921.1:p.Leu206=
XM_011537620.1:c.616C>T XP_011535922.1:p.Leu206=
NM_001363535.1:c.616C>T NP_001350464.1:p.Leu206=
NM_001363536.1:c.388C>T NP_001350465.1:p.Leu130=
XM_017009288.1:c.388C>T XP_016864777.1:p.Leu130=
XM_017009289.1:c.388C>T XP_016864778.1:p.Leu130=
XM_017009290.2:c.-137C>T XP_016864779.1:n.-137C>T
XM_017009291.1:c.-137C>T XP_016864780.1:n.-137C>T
XM_017009292.1:c.-137C>T XP_016864781.1:n.-137C>T
NM_012208.4:c.598C>T MANE Select NP_036340.1:p.Leu200=
NM_001278731.2:c.523C>T NP_001265660.1:p.Leu175=
NM_001278732.2:c.166C>T NP_001265661.1:p.Leu56=
NM_001363535.2:c.616C>T NP_001350464.1:p.Leu206=
NM_001363536.2:c.388C>T NP_001350465.1:p.Leu130=