Canonical Allele Identifier: CA2675625989

Gene: HARS2

Linked Data

• gnomAD v4: 5-140695448-CTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695449_140695451del , CM000667.2:g.140695449_140695451del	GRCh38
NC_000005.9:g.140075034_140075036del , CM000667.1:g.140075034_140075036del	GRCh37
NC_000005.8:g.140055218_140055220del	NCBI36
NG_021415.1:g.9017_9019del
NG_032158.1:g.936_938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.400-59_400-57del MANE Select	ENSP00000230771.3:n.400-59_400-57del
ENST00000503873.6:c.304-289_304-287del	ENSP00000424516.2:n.304-289_304-287del
ENST00000509299.6:c.190-59_190-57del	ENSP00000425695.2:n.190-59_190-57del
ENST00000520095.6:c.*104-289_*104-287del	ENSP00000429220.1:n.*104-289_*104-287del
ENST00000642452.1:c.366-59_366-57del
ENST00000642752.1:c.400-59_400-57del	ENSP00000493630.1:n.400-59_400-57del
ENST00000642970.1:c.190-59_190-57del	ENSP00000496011.1:n.190-59_190-57del
ENST00000643996.1:c.190-59_190-57del	ENSP00000495350.1:n.190-59_190-57del
ENST00000645065.1:c.418-59_418-57del	ENSP00000493571.1:n.418-59_418-57del
ENST00000645749.1:c.400-59_400-57del	ENSP00000494296.1:n.400-59_400-57del
ENST00000646468.1:c.418-59_418-57del	ENSP00000494965.1:n.418-59_418-57del
ENST00000647484.1:c.190-59_190-57del	ENSP00000494140.1:n.190-59_190-57del
ENST00000230771.7:c.400-59_400-57del	ENSP00000230771.3:n.400-59_400-57del
ENST00000448069.2:c.109-289_109-287del	ENSP00000407105.2:n.109-289_109-287del
ENST00000502303.5:n.483-59_483-57del
ENST00000508522.5:c.325-59_325-57del	ENSP00000423616.1:n.325-59_325-57del
ENST00000509299.5:c.418-59_418-57del	ENSP00000425695.1:n.418-59_418-57del
ENST00000510104.5:c.*200-59_*200-57del	ENSP00000423530.1:n.*200-59_*200-57del
ENST00000513688.1:n.407-59_407-57del
ENST00000520095.5:c.*104-289_*104-287del	ENSP00000429220.1:n.*104-289_*104-287del
NM_001278731.1:c.325-59_325-57del	NP_001265660.1:n.325-59_325-57del
NM_001278732.1:c.94-289_94-287del	NP_001265661.1:n.94-289_94-287del
NM_012208.3:c.400-59_400-57del	NP_036340.1:n.400-59_400-57del
XM_011537619.1:c.418-59_418-57del	XP_011535921.1:n.418-59_418-57del
XM_011537620.1:c.418-59_418-57del	XP_011535922.1:n.418-59_418-57del
NM_001363535.1:c.418-59_418-57del	NP_001350464.1:n.418-59_418-57del
NM_001363536.1:c.190-59_190-57del	NP_001350465.1:n.190-59_190-57del
XM_017009288.1:c.190-59_190-57del	XP_016864777.1:n.190-59_190-57del
XM_017009289.1:c.190-59_190-57del	XP_016864778.1:n.190-59_190-57del
XM_017009290.2:c.-335-59_-335-57del	XP_016864779.1:n.-335-59_-335-57del
XM_017009291.1:c.-335-59_-335-57del	XP_016864780.1:n.-335-59_-335-57del
XM_017009292.1:c.-335-59_-335-57del	XP_016864781.1:n.-335-59_-335-57del
NM_012208.4:c.400-59_400-57del MANE Select	NP_036340.1:n.400-59_400-57del
NM_001278731.2:c.325-59_325-57del	NP_001265660.1:n.325-59_325-57del
NM_001278732.2:c.94-289_94-287del	NP_001265661.1:n.94-289_94-287del
NM_001363535.2:c.418-59_418-57del	NP_001350464.1:n.418-59_418-57del
NM_001363536.2:c.190-59_190-57del	NP_001350465.1:n.190-59_190-57del