Canonical Allele Identifier: CA361197767

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075212C>A (hg19) ; chr5:g.140695627C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695627C>A , CM000667.2:g.140695627C>A	GRCh38
NC_000005.9:g.140075212C>A , CM000667.1:g.140075212C>A	GRCh37
NC_000005.8:g.140055396C>A	NCBI36
NG_021415.1:g.9195C>A
NG_032158.1:g.760G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.519C>A MANE Select	ENSP00000230771.3:p.Cys173Ter
ENST00000503873.6:c.304-111C>A	ENSP00000424516.2:n.304-111C>A
ENST00000509299.6:c.309C>A	ENSP00000425695.2:p.Cys103Ter
ENST00000520095.6:c.*104-111C>A	ENSP00000429220.1:n.*104-111C>A
ENST00000642452.1:c.485C>A
ENST00000642752.1:c.519C>A	ENSP00000493630.1:p.Cys173Ter
ENST00000642970.1:c.309C>A	ENSP00000496011.1:p.Cys103Ter
ENST00000643996.1:c.309C>A	ENSP00000495350.1:p.Cys103Ter
ENST00000645065.1:c.537C>A	ENSP00000493571.1:p.Cys179Ter
ENST00000645749.1:c.519C>A	ENSP00000494296.1:p.Cys173Ter
ENST00000646468.1:c.537C>A	ENSP00000494965.1:p.Cys179Ter
ENST00000647484.1:c.309C>A	ENSP00000494140.1:p.Cys103Ter
ENST00000230771.7:c.519C>A	ENSP00000230771.3:p.Cys173Ter
ENST00000448069.2:c.109-111C>A	ENSP00000407105.2:n.109-111C>A
ENST00000508522.5:c.444C>A	ENSP00000423616.1:p.Cys148Ter
ENST00000509299.5:c.537C>A	ENSP00000425695.1:p.Cys179Ter
ENST00000510104.5:c.*319C>A	ENSP00000423530.1:n.*319C>A
ENST00000513688.1:n.526C>A
ENST00000520095.5:c.*104-111C>A	ENSP00000429220.1:n.*104-111C>A
NM_001278731.1:c.444C>A	NP_001265660.1:p.Cys148Ter
NM_001278732.1:c.94-111C>A	NP_001265661.1:n.94-111C>A
NM_012208.3:c.519C>A	NP_036340.1:p.Cys173Ter
XM_011537619.1:c.537C>A	XP_011535921.1:p.Cys179Ter
XM_011537620.1:c.537C>A	XP_011535922.1:p.Cys179Ter
NM_001363535.1:c.537C>A	NP_001350464.1:p.Cys179Ter
NM_001363536.1:c.309C>A	NP_001350465.1:p.Cys103Ter
XM_017009288.1:c.309C>A	XP_016864777.1:p.Cys103Ter
XM_017009289.1:c.309C>A	XP_016864778.1:p.Cys103Ter
XM_017009290.2:c.-216C>A	XP_016864779.1:n.-216C>A
XM_017009291.1:c.-216C>A	XP_016864780.1:n.-216C>A
XM_017009292.1:c.-216C>A	XP_016864781.1:n.-216C>A
NM_012208.4:c.519C>A MANE Select	NP_036340.1:p.Cys173Ter
NM_001278731.2:c.444C>A	NP_001265660.1:p.Cys148Ter
NM_001278732.2:c.94-111C>A	NP_001265661.1:n.94-111C>A
NM_001363535.2:c.537C>A	NP_001350464.1:p.Cys179Ter
NM_001363536.2:c.309C>A	NP_001350465.1:p.Cys103Ter