Canonical Allele Identifier: CA382177018
Gene: NARS2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000525345.6:n.380T>A
ENST00000529771.2:c.209T>A ENSP00000435298.2:p.Leu70His
ENST00000695114.1:n.3551T>A
ENST00000695115.1:c.209T>A ENSP00000511705.1:p.Leu70His
ENST00000695116.1:c.142-9303T>A ENSP00000511706.1:n.142-9303T>A
ENST00000695341.1:c.*560T>A ENSP00000511816.1:n.*560T>A
ENST00000695342.1:c.209T>A ENSP00000511817.1:p.Leu70His
ENST00000695343.1:c.209T>A ENSP00000511818.1:p.Leu70His
ENST00000695344.1:c.809T>A ENSP00000511819.1:p.Leu270His
ENST00000695345.1:c.209T>A ENSP00000511820.1:p.Leu70His
ENST00000695346.1:c.*307T>A ENSP00000511821.1:n.*307T>A
ENST00000695347.1:c.*362T>A ENSP00000511822.1:n.*362T>A
ENST00000695348.1:c.209T>A ENSP00000511823.1:p.Leu70His
ENST00000695349.1:c.890T>A ENSP00000511824.1:p.Leu297His
ENST00000695350.1:c.*61T>A ENSP00000511825.1:n.*61T>A
ENST00000695351.1:c.823-12603T>A ENSP00000511826.1:n.823-12603T>A
ENST00000695352.1:c.38T>A ENSP00000511827.1:p.Leu13His
ENST00000695353.1:c.-105-12603T>A ENSP00000511828.1:n.-105-12603T>A
ENST00000695354.1:c.890T>A ENSP00000511829.1:p.Leu297His
ENST00000695355.1:c.890T>A ENSP00000511830.1:p.Leu297His
ENST00000695356.1:c.*871T>A ENSP00000511831.1:n.*871T>A
ENST00000695357.1:c.890T>A ENSP00000511832.1:p.Leu297His
ENST00000695358.1:c.890T>A ENSP00000511833.1:p.Leu297His
ENST00000695359.1:c.*547T>A ENSP00000511834.1:n.*547T>A
ENST00000695360.1:c.890T>A ENSP00000511835.1:p.Leu297His
ENST00000695361.1:c.*89-9303T>A ENSP00000511836.1:n.*89-9303T>A
ENST00000695362.1:c.*210T>A ENSP00000511837.1:n.*210T>A
ENST00000695364.1:n.1228T>A
ENST00000695365.1:n.1180T>A
ENST00000695366.1:c.890T>A ENSP00000511838.1:p.Leu297His
ENST00000281038.10:c.890T>A MANE Select ENSP00000281038.5:p.Leu297His
ENST00000281038.9:c.890T>A ENSP00000281038.5:p.Leu297His
ENST00000525345.5:c.380T>A
ENST00000528850.5:c.209T>A ENSP00000432635.1:p.Leu70His
ENST00000529880.1:c.595-12603T>A ENSP00000432240.1:n.595-12603T>A
NM_001243251.1:c.209T>A NP_001230180.1:p.Leu70His
NM_024678.5:c.890T>A NP_078954.4:p.Leu297His
XM_011545253.1:c.890T>A XP_011543555.1:p.Leu297His
XR_950050.1:n.1259T>A
XR_950051.1:n.1259T>A
XR_950344.1:n.199+3739A>T
XR_950345.1:n.151+5320A>T
XM_011545253.2:c.890T>A XP_011543555.1:p.Leu297His
XM_017018302.2:c.890T>A XP_016873791.1:p.Leu297His
XM_017018303.1:c.209T>A XP_016873792.1:p.Leu70His
XM_017018304.2:c.209T>A XP_016873793.1:p.Leu70His
XR_001747963.2:n.1244T>A
XR_001747964.2:n.1244T>A
XR_001747965.2:n.1244T>A
XR_001747966.2:n.1244T>A
XR_001748314.1:n.3035+3739A>T
NM_024678.6:c.890T>A MANE Select NP_078954.4:p.Leu297His
NM_001243251.2:c.209T>A NP_001230180.1:p.Leu70His