Canonical Allele Identifier: CA361198371

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075419T>C (hg19) ; chr5:g.140695834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695834T>C , CM000667.2:g.140695834T>C	GRCh38
NC_000005.9:g.140075419T>C , CM000667.1:g.140075419T>C	GRCh37
NC_000005.8:g.140055603T>C	NCBI36
NG_021415.1:g.9402T>C
NG_032158.1:g.553A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.622T>C MANE Select	ENSP00000230771.3:p.Phe208Leu
ENST00000503873.6:c.400T>C	ENSP00000424516.2:p.Phe134Leu
ENST00000509299.6:c.412T>C	ENSP00000425695.2:p.Phe138Leu
ENST00000520095.6:c.*200T>C	ENSP00000429220.1:n.*200T>C
ENST00000642452.1:c.588T>C
ENST00000642752.1:c.622T>C	ENSP00000493630.1:p.Phe208Leu
ENST00000642970.1:c.412T>C	ENSP00000496011.1:p.Phe138Leu
ENST00000643996.1:c.412T>C	ENSP00000495350.1:p.Phe138Leu
ENST00000645065.1:c.640T>C	ENSP00000493571.1:p.Phe214Leu
ENST00000645749.1:c.622T>C	ENSP00000494296.1:p.Phe208Leu
ENST00000646468.1:c.640T>C	ENSP00000494965.1:p.Phe214Leu
ENST00000647484.1:c.412T>C	ENSP00000494140.1:p.Phe138Leu
ENST00000230771.7:c.622T>C	ENSP00000230771.3:p.Phe208Leu
ENST00000448069.2:c.205T>C	ENSP00000407105.2:p.Phe69Leu
ENST00000508522.5:c.547T>C	ENSP00000423616.1:p.Phe183Leu
ENST00000510104.5:c.*422T>C	ENSP00000423530.1:n.*422T>C
ENST00000513688.1:n.629T>C
NM_001278731.1:c.547T>C	NP_001265660.1:p.Phe183Leu
NM_001278732.1:c.190T>C	NP_001265661.1:p.Phe64Leu
NM_012208.3:c.622T>C	NP_036340.1:p.Phe208Leu
XM_011537619.1:c.640T>C	XP_011535921.1:p.Phe214Leu
XM_011537620.1:c.640T>C	XP_011535922.1:p.Phe214Leu
NM_001363535.1:c.640T>C	NP_001350464.1:p.Phe214Leu
NM_001363536.1:c.412T>C	NP_001350465.1:p.Phe138Leu
XM_017009288.1:c.412T>C	XP_016864777.1:p.Phe138Leu
XM_017009289.1:c.412T>C	XP_016864778.1:p.Phe138Leu
XM_017009290.2:c.-113T>C	XP_016864779.1:n.-113T>C
XM_017009291.1:c.-113T>C	XP_016864780.1:n.-113T>C
XM_017009292.1:c.-113T>C	XP_016864781.1:n.-113T>C
NM_012208.4:c.622T>C MANE Select	NP_036340.1:p.Phe208Leu
NM_001278731.2:c.547T>C	NP_001265660.1:p.Phe183Leu
NM_001278732.2:c.190T>C	NP_001265661.1:p.Phe64Leu
NM_001363535.2:c.640T>C	NP_001350464.1:p.Phe214Leu
NM_001363536.2:c.412T>C	NP_001350465.1:p.Phe138Leu