Canonical Allele Identifier: CA3444424

Gene: HARS2

Linked Data

• dbSNP Id: rs774685835
• ExAC: 5:140075093 G / T
• gnomAD v2: 5-140075093-G-T
• gnomAD v4: 5-140695508-G-T
• MyVariant Identifiers: chr5:g.140075093G>T (hg19) ; chr5:g.140695508G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695508G>T , CM000667.2:g.140695508G>T	GRCh38
NC_000005.9:g.140075093G>T , CM000667.1:g.140075093G>T	GRCh37
NC_000005.8:g.140055277G>T	NCBI36
NG_021415.1:g.9076G>T
NG_032158.1:g.879C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.400G>T MANE Select	ENSP00000230771.3:p.Val134Phe
ENST00000503873.6:c.304-230G>T	ENSP00000424516.2:n.304-230G>T
ENST00000509299.6:c.190G>T	ENSP00000425695.2:p.Val64Phe
ENST00000520095.6:c.*104-230G>T	ENSP00000429220.1:n.*104-230G>T
ENST00000642452.1:c.366G>T
ENST00000642752.1:c.400G>T	ENSP00000493630.1:p.Val134Phe
ENST00000642970.1:c.190G>T	ENSP00000496011.1:p.Val64Phe
ENST00000643996.1:c.190G>T	ENSP00000495350.1:p.Val64Phe
ENST00000645065.1:c.418G>T	ENSP00000493571.1:p.Val140Phe
ENST00000645749.1:c.400G>T	ENSP00000494296.1:p.Val134Phe
ENST00000646468.1:c.418G>T	ENSP00000494965.1:p.Val140Phe
ENST00000647484.1:c.190G>T	ENSP00000494140.1:p.Val64Phe
ENST00000230771.7:c.400G>T	ENSP00000230771.3:p.Val134Phe
ENST00000448069.2:c.109-230G>T	ENSP00000407105.2:n.109-230G>T
ENST00000502303.5:n.483G>T
ENST00000508522.5:c.325G>T	ENSP00000423616.1:p.Val109Phe
ENST00000509299.5:c.418G>T	ENSP00000425695.1:p.Val140Phe
ENST00000510104.5:c.*200G>T	ENSP00000423530.1:n.*200G>T
ENST00000513688.1:n.407G>T
ENST00000520095.5:c.*104-230G>T	ENSP00000429220.1:n.*104-230G>T
NM_001278731.1:c.325G>T	NP_001265660.1:p.Val109Phe
NM_001278732.1:c.94-230G>T	NP_001265661.1:n.94-230G>T
NM_012208.3:c.400G>T	NP_036340.1:p.Val134Phe
XM_011537619.1:c.418G>T	XP_011535921.1:p.Val140Phe
XM_011537620.1:c.418G>T	XP_011535922.1:p.Val140Phe
NM_001363535.1:c.418G>T	NP_001350464.1:p.Val140Phe
NM_001363536.1:c.190G>T	NP_001350465.1:p.Val64Phe
XM_017009288.1:c.190G>T	XP_016864777.1:p.Val64Phe
XM_017009289.1:c.190G>T	XP_016864778.1:p.Val64Phe
XM_017009290.2:c.-335G>T	XP_016864779.1:n.-335G>T
XM_017009291.1:c.-335G>T	XP_016864780.1:n.-335G>T
XM_017009292.1:c.-335G>T	XP_016864781.1:n.-335G>T
NM_012208.4:c.400G>T MANE Select	NP_036340.1:p.Val134Phe
NM_001278731.2:c.325G>T	NP_001265660.1:p.Val109Phe
NM_001278732.2:c.94-230G>T	NP_001265661.1:n.94-230G>T
NM_001363535.2:c.418G>T	NP_001350464.1:p.Val140Phe
NM_001363536.2:c.190G>T	NP_001350465.1:p.Val64Phe