Canonical Allele Identifier: CA361198382

Gene: HARS2

Linked Data

• gnomAD v4: 5-140695837-C-A
• MyVariant Identifiers: chr5:g.140075422C>A (hg19) ; chr5:g.140695837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695837C>A , CM000667.2:g.140695837C>A	GRCh38
NC_000005.9:g.140075422C>A , CM000667.1:g.140075422C>A	GRCh37
NC_000005.8:g.140055606C>A	NCBI36
NG_021415.1:g.9405C>A
NG_032158.1:g.550G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.625C>A MANE Select	ENSP00000230771.3:p.Leu209Ile
ENST00000503873.6:c.403C>A	ENSP00000424516.2:p.Leu135Ile
ENST00000509299.6:c.415C>A	ENSP00000425695.2:p.Leu139Ile
ENST00000520095.6:c.*203C>A	ENSP00000429220.1:n.*203C>A
ENST00000642452.1:c.591C>A
ENST00000642752.1:c.625C>A	ENSP00000493630.1:p.Leu209Ile
ENST00000642970.1:c.415C>A	ENSP00000496011.1:p.Leu139Ile
ENST00000643996.1:c.415C>A	ENSP00000495350.1:p.Leu139Ile
ENST00000645065.1:c.643C>A	ENSP00000493571.1:p.Leu215Ile
ENST00000645749.1:c.625C>A	ENSP00000494296.1:p.Leu209Ile
ENST00000646468.1:c.643C>A	ENSP00000494965.1:p.Leu215Ile
ENST00000647484.1:c.415C>A	ENSP00000494140.1:p.Leu139Ile
ENST00000230771.7:c.625C>A	ENSP00000230771.3:p.Leu209Ile
ENST00000448069.2:c.208C>A	ENSP00000407105.2:p.Leu70Ile
ENST00000508522.5:c.550C>A	ENSP00000423616.1:p.Leu184Ile
ENST00000510104.5:c.*425C>A	ENSP00000423530.1:n.*425C>A
ENST00000513688.1:n.632C>A
NM_001278731.1:c.550C>A	NP_001265660.1:p.Leu184Ile
NM_001278732.1:c.193C>A	NP_001265661.1:p.Leu65Ile
NM_012208.3:c.625C>A	NP_036340.1:p.Leu209Ile
XM_011537619.1:c.643C>A	XP_011535921.1:p.Leu215Ile
XM_011537620.1:c.643C>A	XP_011535922.1:p.Leu215Ile
NM_001363535.1:c.643C>A	NP_001350464.1:p.Leu215Ile
NM_001363536.1:c.415C>A	NP_001350465.1:p.Leu139Ile
XM_017009288.1:c.415C>A	XP_016864777.1:p.Leu139Ile
XM_017009289.1:c.415C>A	XP_016864778.1:p.Leu139Ile
XM_017009290.2:c.-110C>A	XP_016864779.1:n.-110C>A
XM_017009291.1:c.-110C>A	XP_016864780.1:n.-110C>A
XM_017009292.1:c.-110C>A	XP_016864781.1:n.-110C>A
NM_012208.4:c.625C>A MANE Select	NP_036340.1:p.Leu209Ile
NM_001278731.2:c.550C>A	NP_001265660.1:p.Leu184Ile
NM_001278732.2:c.193C>A	NP_001265661.1:p.Leu65Ile
NM_001363535.2:c.643C>A	NP_001350464.1:p.Leu215Ile
NM_001363536.2:c.415C>A	NP_001350465.1:p.Leu139Ile