Canonical Allele Identifier: CA2527229561

Gene: HARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695884T>C , CM000667.2:g.140695884T>C	GRCh38
NC_000005.9:g.140075469T>C , CM000667.1:g.140075469T>C	GRCh37
NC_000005.8:g.140055653T>C	NCBI36
NG_021415.1:g.9452T>C
NG_032158.1:g.503A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.633+39T>C MANE Select	ENSP00000230771.3:n.633+39T>C
ENST00000503873.6:c.411+39T>C	ENSP00000424516.2:n.411+39T>C
ENST00000509299.6:c.423+39T>C	ENSP00000425695.2:n.423+39T>C
ENST00000520095.6:c.*211+39T>C	ENSP00000429220.1:n.*211+39T>C
ENST00000642452.1:c.599+39T>C
ENST00000642752.1:c.633+39T>C	ENSP00000493630.1:n.633+39T>C
ENST00000642970.1:c.423+39T>C	ENSP00000496011.1:n.423+39T>C
ENST00000643996.1:c.423+39T>C	ENSP00000495350.1:n.423+39T>C
ENST00000645065.1:c.651+39T>C	ENSP00000493571.1:n.651+39T>C
ENST00000645749.1:c.633+39T>C	ENSP00000494296.1:n.633+39T>C
ENST00000646468.1:c.651+39T>C	ENSP00000494965.1:n.651+39T>C
ENST00000647484.1:c.423+39T>C	ENSP00000494140.1:n.423+39T>C
ENST00000230771.7:c.633+39T>C	ENSP00000230771.3:n.633+39T>C
ENST00000448069.2:c.216+39T>C	ENSP00000407105.2:n.216+39T>C
ENST00000508522.5:c.558+39T>C	ENSP00000423616.1:n.558+39T>C
ENST00000510104.5:c.*472T>C	ENSP00000423530.1:n.*472T>C
ENST00000513688.1:n.640+39T>C
NM_001278731.1:c.558+39T>C	NP_001265660.1:n.558+39T>C
NM_001278732.1:c.201+39T>C	NP_001265661.1:n.201+39T>C
NM_012208.3:c.633+39T>C	NP_036340.1:n.633+39T>C
XM_011537619.1:c.651+39T>C	XP_011535921.1:n.651+39T>C
XM_011537620.1:c.651+39T>C	XP_011535922.1:n.651+39T>C
NM_001363535.1:c.651+39T>C	NP_001350464.1:n.651+39T>C
NM_001363536.1:c.423+39T>C	NP_001350465.1:n.423+39T>C
XM_017009288.1:c.423+39T>C	XP_016864777.1:n.423+39T>C
XM_017009289.1:c.423+39T>C	XP_016864778.1:n.423+39T>C
XM_017009290.2:c.-102+39T>C	XP_016864779.1:n.-102+39T>C
XM_017009291.1:c.-102+39T>C	XP_016864780.1:n.-102+39T>C
XM_017009292.1:c.-102+39T>C	XP_016864781.1:n.-102+39T>C
NM_012208.4:c.633+39T>C MANE Select	NP_036340.1:n.633+39T>C
NM_001278731.2:c.558+39T>C	NP_001265660.1:n.558+39T>C
NM_001278732.2:c.201+39T>C	NP_001265661.1:n.201+39T>C
NM_001363535.2:c.651+39T>C	NP_001350464.1:n.651+39T>C
NM_001363536.2:c.423+39T>C	NP_001350465.1:n.423+39T>C