Canonical Allele Identifier: CA361198394

Gene: HARS2

Linked Data

• gnomAD v4: 5-140695840-A-C
• MyVariant Identifiers: chr5:g.140075425A>C (hg19) ; chr5:g.140695840A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695840A>C , CM000667.2:g.140695840A>C	GRCh38
NC_000005.9:g.140075425A>C , CM000667.1:g.140075425A>C	GRCh37
NC_000005.8:g.140055609A>C	NCBI36
NG_021415.1:g.9408A>C
NG_032158.1:g.547T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.628A>C MANE Select	ENSP00000230771.3:p.Ile210Leu
ENST00000503873.6:c.406A>C	ENSP00000424516.2:p.Ile136Leu
ENST00000509299.6:c.418A>C	ENSP00000425695.2:p.Ile140Leu
ENST00000520095.6:c.*206A>C	ENSP00000429220.1:n.*206A>C
ENST00000642452.1:c.594A>C
ENST00000642752.1:c.628A>C	ENSP00000493630.1:p.Ile210Leu
ENST00000642970.1:c.418A>C	ENSP00000496011.1:p.Ile140Leu
ENST00000643996.1:c.418A>C	ENSP00000495350.1:p.Ile140Leu
ENST00000645065.1:c.646A>C	ENSP00000493571.1:p.Ile216Leu
ENST00000645749.1:c.628A>C	ENSP00000494296.1:p.Ile210Leu
ENST00000646468.1:c.646A>C	ENSP00000494965.1:p.Ile216Leu
ENST00000647484.1:c.418A>C	ENSP00000494140.1:p.Ile140Leu
ENST00000230771.7:c.628A>C	ENSP00000230771.3:p.Ile210Leu
ENST00000448069.2:c.211A>C	ENSP00000407105.2:p.Ile71Leu
ENST00000508522.5:c.553A>C	ENSP00000423616.1:p.Ile185Leu
ENST00000510104.5:c.*428A>C	ENSP00000423530.1:n.*428A>C
ENST00000513688.1:n.635A>C
NM_001278731.1:c.553A>C	NP_001265660.1:p.Ile185Leu
NM_001278732.1:c.196A>C	NP_001265661.1:p.Ile66Leu
NM_012208.3:c.628A>C	NP_036340.1:p.Ile210Leu
XM_011537619.1:c.646A>C	XP_011535921.1:p.Ile216Leu
XM_011537620.1:c.646A>C	XP_011535922.1:p.Ile216Leu
NM_001363535.1:c.646A>C	NP_001350464.1:p.Ile216Leu
NM_001363536.1:c.418A>C	NP_001350465.1:p.Ile140Leu
XM_017009288.1:c.418A>C	XP_016864777.1:p.Ile140Leu
XM_017009289.1:c.418A>C	XP_016864778.1:p.Ile140Leu
XM_017009290.2:c.-107A>C	XP_016864779.1:n.-107A>C
XM_017009291.1:c.-107A>C	XP_016864780.1:n.-107A>C
XM_017009292.1:c.-107A>C	XP_016864781.1:n.-107A>C
NM_012208.4:c.628A>C MANE Select	NP_036340.1:p.Ile210Leu
NM_001278731.2:c.553A>C	NP_001265660.1:p.Ile185Leu
NM_001278732.2:c.196A>C	NP_001265661.1:p.Ile66Leu
NM_001363535.2:c.646A>C	NP_001350464.1:p.Ile216Leu
NM_001363536.2:c.418A>C	NP_001350465.1:p.Ile140Leu