Canonical Allele Identifier: CA2675626016

Gene: HARS2

Linked Data

• gnomAD v4: 5-140695615-TAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695616_140695618del , CM000667.2:g.140695616_140695618del	GRCh38
NC_000005.9:g.140075201_140075203del , CM000667.1:g.140075201_140075203del	GRCh37
NC_000005.8:g.140055385_140055387del	NCBI36
NG_021415.1:g.9184_9186del
NG_032158.1:g.769_771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.508_510del MANE Select	ENSP00000230771.3:p.Arg170del
ENST00000503873.6:c.304-122_304-120del	ENSP00000424516.2:n.304-122_304-120del
ENST00000509299.6:c.298_300del	ENSP00000425695.2:p.Arg100del
ENST00000520095.6:c.*104-122_*104-120del	ENSP00000429220.1:n.*104-122_*104-120del
ENST00000642452.1:c.474_476del
ENST00000642752.1:c.508_510del	ENSP00000493630.1:p.Arg170del
ENST00000642970.1:c.298_300del	ENSP00000496011.1:p.Arg100del
ENST00000643996.1:c.298_300del	ENSP00000495350.1:p.Arg100del
ENST00000645065.1:c.526_528del	ENSP00000493571.1:p.Arg176del
ENST00000645749.1:c.508_510del	ENSP00000494296.1:p.Arg170del
ENST00000646468.1:c.526_528del	ENSP00000494965.1:p.Arg176del
ENST00000647484.1:c.298_300del	ENSP00000494140.1:p.Arg100del
ENST00000230771.7:c.508_510del	ENSP00000230771.3:p.Arg170del
ENST00000448069.2:c.109-122_109-120del	ENSP00000407105.2:n.109-122_109-120del
ENST00000508522.5:c.433_435del	ENSP00000423616.1:p.Arg145del
ENST00000509299.5:c.526_528del	ENSP00000425695.1:p.Arg176del
ENST00000510104.5:c.*308_*310del	ENSP00000423530.1:n.*308_*310del
ENST00000513688.1:n.515_517del
ENST00000520095.5:c.*104-122_*104-120del	ENSP00000429220.1:n.*104-122_*104-120del
NM_001278731.1:c.433_435del	NP_001265660.1:p.Arg145del
NM_001278732.1:c.94-122_94-120del	NP_001265661.1:n.94-122_94-120del
NM_012208.3:c.508_510del	NP_036340.1:p.Arg170del
XM_011537619.1:c.526_528del	XP_011535921.1:p.Arg176del
XM_011537620.1:c.526_528del	XP_011535922.1:p.Arg176del
NM_001363535.1:c.526_528del	NP_001350464.1:p.Arg176del
NM_001363536.1:c.298_300del	NP_001350465.1:p.Arg100del
XM_017009288.1:c.298_300del	XP_016864777.1:p.Arg100del
XM_017009289.1:c.298_300del	XP_016864778.1:p.Arg100del
XM_017009290.2:c.-227_-225del	XP_016864779.1:n.-227_-225del
XM_017009291.1:c.-227_-225del	XP_016864780.1:n.-227_-225del
XM_017009292.1:c.-227_-225del	XP_016864781.1:n.-227_-225del
NM_012208.4:c.508_510del MANE Select	NP_036340.1:p.Arg170del
NM_001278731.2:c.433_435del	NP_001265660.1:p.Arg145del
NM_001278732.2:c.94-122_94-120del	NP_001265661.1:n.94-122_94-120del
NM_001363535.2:c.526_528del	NP_001350464.1:p.Arg176del
NM_001363536.2:c.298_300del	NP_001350465.1:p.Arg100del