Canonical Allele Identifier: CA1586866387

Gene: HARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695559_140695562delinsTATC , CM000667.2:g.140695559_140695562delinsTATC	GRCh38
NC_000005.9:g.140075144_140075147delinsTATC , CM000667.1:g.140075144_140075147delinsTATC	GRCh37
NC_000005.8:g.140055328_140055331delinsTATC	NCBI36
NG_021415.1:g.9127_9130delinsTATC
NG_032158.1:g.825_828delinsGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.451_454delinsTATC MANE Select	ENSP00000230771.3:p.Tyr151=
ENST00000503873.6:c.304-179_304-176delinsTATC	ENSP00000424516.2:n.304-179_304-176delinsTATC
ENST00000509299.6:c.241_244delinsTATC	ENSP00000425695.2:p.Tyr81=
ENST00000520095.6:c.*104-179_*104-176delinsTATC	ENSP00000429220.1:n.*104-179_*104-176delinsTATC
ENST00000642452.1:c.417_420delinsTATC
ENST00000642752.1:c.451_454delinsTATC	ENSP00000493630.1:p.Tyr151=
ENST00000642970.1:c.241_244delinsTATC	ENSP00000496011.1:p.Tyr81=
ENST00000643996.1:c.241_244delinsTATC	ENSP00000495350.1:p.Tyr81=
ENST00000645065.1:c.469_472delinsTATC	ENSP00000493571.1:p.Tyr157=
ENST00000645749.1:c.451_454delinsTATC	ENSP00000494296.1:p.Tyr151=
ENST00000646468.1:c.469_472delinsTATC	ENSP00000494965.1:p.Tyr157=
ENST00000647484.1:c.241_244delinsTATC	ENSP00000494140.1:p.Tyr81=
ENST00000230771.7:c.451_454delinsTATC	ENSP00000230771.3:p.Tyr151=
ENST00000448069.2:c.109-179_109-176delinsTATC	ENSP00000407105.2:n.109-179_109-176delinsTATC
ENST00000502303.5:n.534_537delinsTATC
ENST00000508522.5:c.376_379delinsTATC	ENSP00000423616.1:p.Tyr126=
ENST00000509299.5:c.469_472delinsTATC	ENSP00000425695.1:p.Tyr157=
ENST00000510104.5:c.*251_*254delinsTATC	ENSP00000423530.1:n.*251_*254delinsTATC
ENST00000513688.1:n.458_461delinsTATC
ENST00000520095.5:c.*104-179_*104-176delinsTATC	ENSP00000429220.1:n.*104-179_*104-176delinsTATC
NM_001278731.1:c.376_379delinsTATC	NP_001265660.1:p.Tyr126=
NM_001278732.1:c.94-179_94-176delinsTATC	NP_001265661.1:n.94-179_94-176delinsTATC
NM_012208.3:c.451_454delinsTATC	NP_036340.1:p.Tyr151=
XM_011537619.1:c.469_472delinsTATC	XP_011535921.1:p.Tyr157=
XM_011537620.1:c.469_472delinsTATC	XP_011535922.1:p.Tyr157=
NM_001363535.1:c.469_472delinsTATC	NP_001350464.1:p.Tyr157=
NM_001363536.1:c.241_244delinsTATC	NP_001350465.1:p.Tyr81=
XM_017009288.1:c.241_244delinsTATC	XP_016864777.1:p.Tyr81=
XM_017009289.1:c.241_244delinsTATC	XP_016864778.1:p.Tyr81=
XM_017009290.2:c.-284_-281delinsTATC	XP_016864779.1:n.-284_-281delinsTATC
XM_017009291.1:c.-284_-281delinsTATC	XP_016864780.1:n.-284_-281delinsTATC
XM_017009292.1:c.-284_-281delinsTATC	XP_016864781.1:n.-284_-281delinsTATC
NM_012208.4:c.451_454delinsTATC MANE Select	NP_036340.1:p.Tyr151=
NM_001278731.2:c.376_379delinsTATC	NP_001265660.1:p.Tyr126=
NM_001278732.2:c.94-179_94-176delinsTATC	NP_001265661.1:n.94-179_94-176delinsTATC
NM_001363535.2:c.469_472delinsTATC	NP_001350464.1:p.Tyr157=
NM_001363536.2:c.241_244delinsTATC	NP_001350465.1:p.Tyr81=