Canonical Allele Identifier: CA2675625957

Gene: HARS2

Linked Data

• gnomAD v4: 5-140695426-C-CAGTTGTTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695428_140695429insTTGTTATAG , CM000667.2:g.140695428_140695429insTTGTTATAG	GRCh38
NC_000005.9:g.140075013_140075014insTTGTTATAG , CM000667.1:g.140075013_140075014insTTGTTATAG	GRCh37
NC_000005.8:g.140055197_140055198insTTGTTATAG	NCBI36
NG_021415.1:g.8996_8997insTTGTTATAG
NG_032158.1:g.960_961insATAACAACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.400-80_400-79insTTGTTATAG MANE Select	ENSP00000230771.3:n.400-80_400-79insTTGTTATAG
ENST00000503873.6:c.304-310_304-309insTTGTTATAG	ENSP00000424516.2:n.304-310_304-309insTTGTTATAG
ENST00000509299.6:c.190-80_190-79insTTGTTATAG	ENSP00000425695.2:n.190-80_190-79insTTGTTATAG
ENST00000520095.6:c.*104-310_*104-309insTTGTTATAG	ENSP00000429220.1:n.*104-310_*104-309insTTGTTATAG
ENST00000642452.1:c.366-80_366-79insTTGTTATAG
ENST00000642752.1:c.400-80_400-79insTTGTTATAG	ENSP00000493630.1:n.400-80_400-79insTTGTTATAG
ENST00000642970.1:c.190-80_190-79insTTGTTATAG	ENSP00000496011.1:n.190-80_190-79insTTGTTATAG
ENST00000643996.1:c.190-80_190-79insTTGTTATAG	ENSP00000495350.1:n.190-80_190-79insTTGTTATAG
ENST00000645065.1:c.418-80_418-79insTTGTTATAG	ENSP00000493571.1:n.418-80_418-79insTTGTTATAG
ENST00000645749.1:c.400-80_400-79insTTGTTATAG	ENSP00000494296.1:n.400-80_400-79insTTGTTATAG
ENST00000646468.1:c.418-80_418-79insTTGTTATAG	ENSP00000494965.1:n.418-80_418-79insTTGTTATAG
ENST00000647484.1:c.190-80_190-79insTTGTTATAG	ENSP00000494140.1:n.190-80_190-79insTTGTTATAG
ENST00000230771.7:c.400-80_400-79insTTGTTATAG	ENSP00000230771.3:n.400-80_400-79insTTGTTATAG
ENST00000448069.2:c.109-310_109-309insTTGTTATAG	ENSP00000407105.2:n.109-310_109-309insTTGTTATAG
ENST00000502303.5:n.483-80_483-79insTTGTTATAG
ENST00000508522.5:c.325-80_325-79insTTGTTATAG	ENSP00000423616.1:n.325-80_325-79insTTGTTATAG
ENST00000509299.5:c.418-80_418-79insTTGTTATAG	ENSP00000425695.1:n.418-80_418-79insTTGTTATAG
ENST00000510104.5:c.*200-80_*200-79insTTGTTATAG	ENSP00000423530.1:n.*200-80_*200-79insTTGTTATAG
ENST00000513688.1:n.407-80_407-79insTTGTTATAG
ENST00000520095.5:c.*104-310_*104-309insTTGTTATAG	ENSP00000429220.1:n.*104-310_*104-309insTTGTTATAG
NM_001278731.1:c.325-80_325-79insTTGTTATAG	NP_001265660.1:n.325-80_325-79insTTGTTATAG
NM_001278732.1:c.94-310_94-309insTTGTTATAG	NP_001265661.1:n.94-310_94-309insTTGTTATAG
NM_012208.3:c.400-80_400-79insTTGTTATAG	NP_036340.1:n.400-80_400-79insTTGTTATAG
XM_011537619.1:c.418-80_418-79insTTGTTATAG	XP_011535921.1:n.418-80_418-79insTTGTTATAG
XM_011537620.1:c.418-80_418-79insTTGTTATAG	XP_011535922.1:n.418-80_418-79insTTGTTATAG
NM_001363535.1:c.418-80_418-79insTTGTTATAG	NP_001350464.1:n.418-80_418-79insTTGTTATAG
NM_001363536.1:c.190-80_190-79insTTGTTATAG	NP_001350465.1:n.190-80_190-79insTTGTTATAG
XM_017009288.1:c.190-80_190-79insTTGTTATAG	XP_016864777.1:n.190-80_190-79insTTGTTATAG
XM_017009289.1:c.190-80_190-79insTTGTTATAG	XP_016864778.1:n.190-80_190-79insTTGTTATAG
XM_017009290.2:c.-335-80_-335-79insTTGTTATAG	XP_016864779.1:n.-335-80_-335-79insTTGTTATAG
XM_017009291.1:c.-335-80_-335-79insTTGTTATAG	XP_016864780.1:n.-335-80_-335-79insTTGTTATAG
XM_017009292.1:c.-335-80_-335-79insTTGTTATAG	XP_016864781.1:n.-335-80_-335-79insTTGTTATAG
NM_012208.4:c.400-80_400-79insTTGTTATAG MANE Select	NP_036340.1:n.400-80_400-79insTTGTTATAG
NM_001278731.2:c.325-80_325-79insTTGTTATAG	NP_001265660.1:n.325-80_325-79insTTGTTATAG
NM_001278732.2:c.94-310_94-309insTTGTTATAG	NP_001265661.1:n.94-310_94-309insTTGTTATAG
NM_001363535.2:c.418-80_418-79insTTGTTATAG	NP_001350464.1:n.418-80_418-79insTTGTTATAG
NM_001363536.2:c.190-80_190-79insTTGTTATAG	NP_001350465.1:n.190-80_190-79insTTGTTATAG