Canonical Allele Identifier: CA382177017

Gene: NARS2

Linked Data

• MyVariant Identifiers: chr11:g.78189662A>C (hg19) ; chr11:g.78478616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78478616A>C , CM000673.2:g.78478616A>C	GRCh38
NC_000011.9:g.78189662A>C , CM000673.1:g.78189662A>C	GRCh37
NC_000011.8:g.77867310A>C	NCBI36
NG_042046.1:g.101249T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525345.6:n.380T>G
ENST00000529771.2:c.209T>G	ENSP00000435298.2:p.Leu70Arg
ENST00000695114.1:n.3551T>G
ENST00000695115.1:c.209T>G	ENSP00000511705.1:p.Leu70Arg
ENST00000695116.1:c.142-9303T>G	ENSP00000511706.1:n.142-9303T>G
ENST00000695341.1:c.*560T>G	ENSP00000511816.1:n.*560T>G
ENST00000695342.1:c.209T>G	ENSP00000511817.1:p.Leu70Arg
ENST00000695343.1:c.209T>G	ENSP00000511818.1:p.Leu70Arg
ENST00000695344.1:c.809T>G	ENSP00000511819.1:p.Leu270Arg
ENST00000695345.1:c.209T>G	ENSP00000511820.1:p.Leu70Arg
ENST00000695346.1:c.*307T>G	ENSP00000511821.1:n.*307T>G
ENST00000695347.1:c.*362T>G	ENSP00000511822.1:n.*362T>G
ENST00000695348.1:c.209T>G	ENSP00000511823.1:p.Leu70Arg
ENST00000695349.1:c.890T>G	ENSP00000511824.1:p.Leu297Arg
ENST00000695350.1:c.*61T>G	ENSP00000511825.1:n.*61T>G
ENST00000695351.1:c.823-12603T>G	ENSP00000511826.1:n.823-12603T>G
ENST00000695352.1:c.38T>G	ENSP00000511827.1:p.Leu13Arg
ENST00000695353.1:c.-105-12603T>G	ENSP00000511828.1:n.-105-12603T>G
ENST00000695354.1:c.890T>G	ENSP00000511829.1:p.Leu297Arg
ENST00000695355.1:c.890T>G	ENSP00000511830.1:p.Leu297Arg
ENST00000695356.1:c.*871T>G	ENSP00000511831.1:n.*871T>G
ENST00000695357.1:c.890T>G	ENSP00000511832.1:p.Leu297Arg
ENST00000695358.1:c.890T>G	ENSP00000511833.1:p.Leu297Arg
ENST00000695359.1:c.*547T>G	ENSP00000511834.1:n.*547T>G
ENST00000695360.1:c.890T>G	ENSP00000511835.1:p.Leu297Arg
ENST00000695361.1:c.*89-9303T>G	ENSP00000511836.1:n.*89-9303T>G
ENST00000695362.1:c.*210T>G	ENSP00000511837.1:n.*210T>G
ENST00000695364.1:n.1228T>G
ENST00000695365.1:n.1180T>G
ENST00000695366.1:c.890T>G	ENSP00000511838.1:p.Leu297Arg
ENST00000281038.10:c.890T>G MANE Select	ENSP00000281038.5:p.Leu297Arg
ENST00000281038.9:c.890T>G	ENSP00000281038.5:p.Leu297Arg
ENST00000525345.5:c.380T>G
ENST00000528850.5:c.209T>G	ENSP00000432635.1:p.Leu70Arg
ENST00000529880.1:c.595-12603T>G	ENSP00000432240.1:n.595-12603T>G
NM_001243251.1:c.209T>G	NP_001230180.1:p.Leu70Arg
NM_024678.5:c.890T>G	NP_078954.4:p.Leu297Arg
XM_011545253.1:c.890T>G	XP_011543555.1:p.Leu297Arg
XR_950050.1:n.1259T>G
XR_950051.1:n.1259T>G
XR_950344.1:n.199+3739A>C
XR_950345.1:n.151+5320A>C
XM_011545253.2:c.890T>G	XP_011543555.1:p.Leu297Arg
XM_017018302.2:c.890T>G	XP_016873791.1:p.Leu297Arg
XM_017018303.1:c.209T>G	XP_016873792.1:p.Leu70Arg
XM_017018304.2:c.209T>G	XP_016873793.1:p.Leu70Arg
XR_001747963.2:n.1244T>G
XR_001747964.2:n.1244T>G
XR_001747965.2:n.1244T>G
XR_001747966.2:n.1244T>G
XR_001748314.1:n.3035+3739A>C
NM_024678.6:c.890T>G MANE Select	NP_078954.4:p.Leu297Arg
NM_001243251.2:c.209T>G	NP_001230180.1:p.Leu70Arg