Canonical Allele Identifier: CA361198130

Gene: HARS2

Linked Data

• MyVariant Identifiers: chr5:g.140075365G>T (hg19) ; chr5:g.140695780G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140695780G>T , CM000667.2:g.140695780G>T	GRCh38
NC_000005.9:g.140075365G>T , CM000667.1:g.140075365G>T	GRCh37
NC_000005.8:g.140055549G>T	NCBI36
NG_021415.1:g.9348G>T
NG_032158.1:g.607C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230771.9:c.568G>T MANE Select	ENSP00000230771.3:p.Ala190Ser
ENST00000503873.6:c.346G>T	ENSP00000424516.2:p.Ala116Ser
ENST00000509299.6:c.358G>T	ENSP00000425695.2:p.Ala120Ser
ENST00000520095.6:c.*146G>T	ENSP00000429220.1:n.*146G>T
ENST00000642452.1:c.534G>T
ENST00000642752.1:c.568G>T	ENSP00000493630.1:p.Ala190Ser
ENST00000642970.1:c.358G>T	ENSP00000496011.1:p.Ala120Ser
ENST00000643996.1:c.358G>T	ENSP00000495350.1:p.Ala120Ser
ENST00000645065.1:c.586G>T	ENSP00000493571.1:p.Ala196Ser
ENST00000645749.1:c.568G>T	ENSP00000494296.1:p.Ala190Ser
ENST00000646468.1:c.586G>T	ENSP00000494965.1:p.Ala196Ser
ENST00000647484.1:c.358G>T	ENSP00000494140.1:p.Ala120Ser
ENST00000230771.7:c.568G>T	ENSP00000230771.3:p.Ala190Ser
ENST00000448069.2:c.151G>T	ENSP00000407105.2:p.Ala51Ser
ENST00000508522.5:c.493G>T	ENSP00000423616.1:p.Ala165Ser
ENST00000510104.5:c.*368G>T	ENSP00000423530.1:n.*368G>T
ENST00000513688.1:n.575G>T
NM_001278731.1:c.493G>T	NP_001265660.1:p.Ala165Ser
NM_001278732.1:c.136G>T	NP_001265661.1:p.Ala46Ser
NM_012208.3:c.568G>T	NP_036340.1:p.Ala190Ser
XM_011537619.1:c.586G>T	XP_011535921.1:p.Ala196Ser
XM_011537620.1:c.586G>T	XP_011535922.1:p.Ala196Ser
NM_001363535.1:c.586G>T	NP_001350464.1:p.Ala196Ser
NM_001363536.1:c.358G>T	NP_001350465.1:p.Ala120Ser
XM_017009288.1:c.358G>T	XP_016864777.1:p.Ala120Ser
XM_017009289.1:c.358G>T	XP_016864778.1:p.Ala120Ser
XM_017009290.2:c.-167G>T	XP_016864779.1:n.-167G>T
XM_017009291.1:c.-167G>T	XP_016864780.1:n.-167G>T
XM_017009292.1:c.-167G>T	XP_016864781.1:n.-167G>T
NM_012208.4:c.568G>T MANE Select	NP_036340.1:p.Ala190Ser
NM_001278731.2:c.493G>T	NP_001265660.1:p.Ala165Ser
NM_001278732.2:c.136G>T	NP_001265661.1:p.Ala46Ser
NM_001363535.2:c.586G>T	NP_001350464.1:p.Ala196Ser
NM_001363536.2:c.358G>T	NP_001350465.1:p.Ala120Ser