Canonical Allele Identifier: CA2675626048

Gene: HARS2

Linked Data

• gnomAD v4: 5-140695862-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695862G>A , CM000667.2:g.140695862G>A	GRCh38
NC_000005.9:g.140075447G>A , CM000667.1:g.140075447G>A	GRCh37
NC_000005.8:g.140055631G>A	NCBI36
NG_021415.1:g.9430G>A
NG_032158.1:g.525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.633+17G>A MANE Select	ENSP00000230771.3:n.633+17G>A
ENST00000503873.6:c.411+17G>A	ENSP00000424516.2:n.411+17G>A
ENST00000509299.6:c.423+17G>A	ENSP00000425695.2:n.423+17G>A
ENST00000520095.6:c.*211+17G>A	ENSP00000429220.1:n.*211+17G>A
ENST00000642452.1:c.599+17G>A
ENST00000642752.1:c.633+17G>A	ENSP00000493630.1:n.633+17G>A
ENST00000642970.1:c.423+17G>A	ENSP00000496011.1:n.423+17G>A
ENST00000643996.1:c.423+17G>A	ENSP00000495350.1:n.423+17G>A
ENST00000645065.1:c.651+17G>A	ENSP00000493571.1:n.651+17G>A
ENST00000645749.1:c.633+17G>A	ENSP00000494296.1:n.633+17G>A
ENST00000646468.1:c.651+17G>A	ENSP00000494965.1:n.651+17G>A
ENST00000647484.1:c.423+17G>A	ENSP00000494140.1:n.423+17G>A
ENST00000230771.7:c.633+17G>A	ENSP00000230771.3:n.633+17G>A
ENST00000448069.2:c.216+17G>A	ENSP00000407105.2:n.216+17G>A
ENST00000508522.5:c.558+17G>A	ENSP00000423616.1:n.558+17G>A
ENST00000510104.5:c.*450G>A	ENSP00000423530.1:n.*450G>A
ENST00000513688.1:n.640+17G>A
NM_001278731.1:c.558+17G>A	NP_001265660.1:n.558+17G>A
NM_001278732.1:c.201+17G>A	NP_001265661.1:n.201+17G>A
NM_012208.3:c.633+17G>A	NP_036340.1:n.633+17G>A
XM_011537619.1:c.651+17G>A	XP_011535921.1:n.651+17G>A
XM_011537620.1:c.651+17G>A	XP_011535922.1:n.651+17G>A
NM_001363535.1:c.651+17G>A	NP_001350464.1:n.651+17G>A
NM_001363536.1:c.423+17G>A	NP_001350465.1:n.423+17G>A
XM_017009288.1:c.423+17G>A	XP_016864777.1:n.423+17G>A
XM_017009289.1:c.423+17G>A	XP_016864778.1:n.423+17G>A
XM_017009290.2:c.-102+17G>A	XP_016864779.1:n.-102+17G>A
XM_017009291.1:c.-102+17G>A	XP_016864780.1:n.-102+17G>A
XM_017009292.1:c.-102+17G>A	XP_016864781.1:n.-102+17G>A
NM_012208.4:c.633+17G>A MANE Select	NP_036340.1:n.633+17G>A
NM_001278731.2:c.558+17G>A	NP_001265660.1:n.558+17G>A
NM_001278732.2:c.201+17G>A	NP_001265661.1:n.201+17G>A
NM_001363535.2:c.651+17G>A	NP_001350464.1:n.651+17G>A
NM_001363536.2:c.423+17G>A	NP_001350465.1:n.423+17G>A