Canonical Allele Identifier: CA361197697

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075202G>A (hg19) ; chr5:g.140695617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695617G>A , CM000667.2:g.140695617G>A	GRCh38
NC_000005.9:g.140075202G>A , CM000667.1:g.140075202G>A	GRCh37
NC_000005.8:g.140055386G>A	NCBI36
NG_021415.1:g.9185G>A
NG_032158.1:g.770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.509G>A MANE Select	ENSP00000230771.3:p.Arg170Lys
ENST00000503873.6:c.304-121G>A	ENSP00000424516.2:n.304-121G>A
ENST00000509299.6:c.299G>A	ENSP00000425695.2:p.Arg100Lys
ENST00000520095.6:c.*104-121G>A	ENSP00000429220.1:n.*104-121G>A
ENST00000642452.1:c.475G>A
ENST00000642752.1:c.509G>A	ENSP00000493630.1:p.Arg170Lys
ENST00000642970.1:c.299G>A	ENSP00000496011.1:p.Arg100Lys
ENST00000643996.1:c.299G>A	ENSP00000495350.1:p.Arg100Lys
ENST00000645065.1:c.527G>A	ENSP00000493571.1:p.Arg176Lys
ENST00000645749.1:c.509G>A	ENSP00000494296.1:p.Arg170Lys
ENST00000646468.1:c.527G>A	ENSP00000494965.1:p.Arg176Lys
ENST00000647484.1:c.299G>A	ENSP00000494140.1:p.Arg100Lys
ENST00000230771.7:c.509G>A	ENSP00000230771.3:p.Arg170Lys
ENST00000448069.2:c.109-121G>A	ENSP00000407105.2:n.109-121G>A
ENST00000508522.5:c.434G>A	ENSP00000423616.1:p.Arg145Lys
ENST00000509299.5:c.527G>A	ENSP00000425695.1:p.Arg176Lys
ENST00000510104.5:c.*309G>A	ENSP00000423530.1:n.*309G>A
ENST00000513688.1:n.516G>A
ENST00000520095.5:c.*104-121G>A	ENSP00000429220.1:n.*104-121G>A
NM_001278731.1:c.434G>A	NP_001265660.1:p.Arg145Lys
NM_001278732.1:c.94-121G>A	NP_001265661.1:n.94-121G>A
NM_012208.3:c.509G>A	NP_036340.1:p.Arg170Lys
XM_011537619.1:c.527G>A	XP_011535921.1:p.Arg176Lys
XM_011537620.1:c.527G>A	XP_011535922.1:p.Arg176Lys
NM_001363535.1:c.527G>A	NP_001350464.1:p.Arg176Lys
NM_001363536.1:c.299G>A	NP_001350465.1:p.Arg100Lys
XM_017009288.1:c.299G>A	XP_016864777.1:p.Arg100Lys
XM_017009289.1:c.299G>A	XP_016864778.1:p.Arg100Lys
XM_017009290.2:c.-226G>A	XP_016864779.1:n.-226G>A
XM_017009291.1:c.-226G>A	XP_016864780.1:n.-226G>A
XM_017009292.1:c.-226G>A	XP_016864781.1:n.-226G>A
NM_012208.4:c.509G>A MANE Select	NP_036340.1:p.Arg170Lys
NM_001278731.2:c.434G>A	NP_001265660.1:p.Arg145Lys
NM_001278732.2:c.94-121G>A	NP_001265661.1:n.94-121G>A
NM_001363535.2:c.527G>A	NP_001350464.1:p.Arg176Lys
NM_001363536.2:c.299G>A	NP_001350465.1:p.Arg100Lys