Canonical Allele Identifier: CA1586867417
Community Standard Title: NM_012208.4(HARS2):c.641A= (p.Asp214=)
Gene: HARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140696110A= , CM000667.2:g.140696110A= GRCh38
NC_000005.9:g.140075695A= , CM000667.1:g.140075695A= GRCh37
NC_000005.8:g.140055879A= NCBI36
NG_021415.1:g.9678A=
NG_032158.1:g.277T=

Transcript Alleles

HGVS Amino-acid Change
NM_012208.4:c.641A= MANE Select NP_036340.1:p.Asp214=
ENST00000230771.9:c.641A= MANE Select ENSP00000230771.3:p.Asp214=
NM_001278731.1:c.566A= NP_001265660.1:p.Asp189=
NM_001278731.2:c.566A= NP_001265660.1:p.Asp189=
NM_001278732.1:c.209A= NP_001265661.1:p.Asp70=
NM_001278732.2:c.209A= NP_001265661.1:p.Asp70=
NM_001363535.1:c.659A= NP_001350464.1:p.Asp220=
NM_001363535.2:c.659A= NP_001350464.1:p.Asp220=
NM_001363536.1:c.431A= NP_001350465.1:p.Asp144=
NM_001363536.2:c.431A= NP_001350465.1:p.Asp144=
NM_012208.3:c.641A= NP_036340.1:p.Asp214=
ENST00000230771.7:c.641A= ENSP00000230771.3:p.Asp214=
ENST00000448069.2:c.216+265A= ENSP00000407105.2:n.216+265A=
ENST00000503873.6:c.411+265A= ENSP00000424516.2:n.411+265A=
ENST00000508522.5:c.566A= ENSP00000423616.1:p.Asp189=
ENST00000509299.6:c.431A= ENSP00000425695.2:p.Asp144=
ENST00000510104.5:c.*698A= ENSP00000423530.1:n.*698A=
ENST00000513688.1:n.648A=
ENST00000520095.6:c.*219A= ENSP00000429220.1:n.*219A=
ENST00000642452.1:c.681A=
ENST00000642752.1:c.633+265A= ENSP00000493630.1:n.633+265A=
ENST00000642970.1:c.431A= ENSP00000496011.1:p.Asp144=
ENST00000643996.1:c.431A= ENSP00000495350.1:p.Asp144=
ENST00000645065.1:c.659A= ENSP00000493571.1:p.Asp220=
ENST00000645749.1:c.641A= ENSP00000494296.1:p.Asp214=
ENST00000646468.1:c.659A= ENSP00000494965.1:p.Asp220=
ENST00000647484.1:c.*22A= ENSP00000494140.1:n.*22A=
XM_011537619.1:c.659A= XP_011535921.1:p.Asp220=
XM_011537620.1:c.651+265A= XP_011535922.1:n.651+265A=
XM_017009288.1:c.431A= XP_016864777.1:p.Asp144=
XM_017009289.1:c.431A= XP_016864778.1:p.Asp144=
XM_017009290.2:c.-20A= XP_016864779.1:n.-20A=
XM_017009291.1:c.-20A= XP_016864780.1:n.-20A=
XM_017009292.1:c.-20A= XP_016864781.1:n.-20A=