Canonical Allele Identifier: CA6205678
Gene: NARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1029917
dbSNP Id: rs549442380

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78478659T>C , CM000673.2:g.78478659T>C GRCh38
NC_000011.9:g.78189705T>C , CM000673.1:g.78189705T>C GRCh37
NC_000011.8:g.77867353T>C NCBI36
NG_042046.1:g.101206A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525345.6:n.337A>G
ENST00000529771.2:c.166A>G ENSP00000435298.2:p.Thr56Ala
ENST00000695114.1:n.3508A>G
ENST00000695115.1:c.166A>G ENSP00000511705.1:p.Thr56Ala
ENST00000695116.1:c.142-9346A>G ENSP00000511706.1:n.142-9346A>G
ENST00000695341.1:c.*517A>G ENSP00000511816.1:n.*517A>G
ENST00000695342.1:c.166A>G ENSP00000511817.1:p.Thr56Ala
ENST00000695343.1:c.166A>G ENSP00000511818.1:p.Thr56Ala
ENST00000695344.1:c.766A>G ENSP00000511819.1:p.Thr256Ala
ENST00000695345.1:c.166A>G ENSP00000511820.1:p.Thr56Ala
ENST00000695346.1:c.*264A>G ENSP00000511821.1:n.*264A>G
ENST00000695347.1:c.*319A>G ENSP00000511822.1:n.*319A>G
ENST00000695348.1:c.166A>G ENSP00000511823.1:p.Thr56Ala
ENST00000695349.1:c.847A>G ENSP00000511824.1:p.Thr283Ala
ENST00000695350.1:c.*18A>G ENSP00000511825.1:n.*18A>G
ENST00000695351.1:c.823-12646A>G ENSP00000511826.1:n.823-12646A>G
ENST00000695352.1:c.-6A>G ENSP00000511827.1:n.-6A>G
ENST00000695353.1:c.-105-12646A>G ENSP00000511828.1:n.-105-12646A>G
ENST00000695354.1:c.847A>G ENSP00000511829.1:p.Thr283Ala
ENST00000695355.1:c.847A>G ENSP00000511830.1:p.Thr283Ala
ENST00000695356.1:c.*828A>G ENSP00000511831.1:n.*828A>G
ENST00000695357.1:c.847A>G ENSP00000511832.1:p.Thr283Ala
ENST00000695358.1:c.847A>G ENSP00000511833.1:p.Thr283Ala
ENST00000695359.1:c.*504A>G ENSP00000511834.1:n.*504A>G
ENST00000695360.1:c.847A>G ENSP00000511835.1:p.Thr283Ala
ENST00000695361.1:c.*89-9346A>G ENSP00000511836.1:n.*89-9346A>G
ENST00000695362.1:c.*167A>G ENSP00000511837.1:n.*167A>G
ENST00000695364.1:n.1185A>G
ENST00000695365.1:n.1137A>G
ENST00000695366.1:c.847A>G ENSP00000511838.1:p.Thr283Ala
ENST00000281038.10:c.847A>G MANE Select ENSP00000281038.5:p.Thr283Ala
ENST00000281038.9:c.847A>G ENSP00000281038.5:p.Thr283Ala
ENST00000525345.5:c.337A>G
ENST00000528850.5:c.166A>G ENSP00000432635.1:p.Thr56Ala
ENST00000529880.1:c.595-12646A>G ENSP00000432240.1:n.595-12646A>G
NM_001243251.1:c.166A>G NP_001230180.1:p.Thr56Ala
NM_024678.5:c.847A>G NP_078954.4:p.Thr283Ala
XM_011545253.1:c.847A>G XP_011543555.1:p.Thr283Ala
XR_950050.1:n.1216A>G
XR_950051.1:n.1216A>G
XR_950344.1:n.199+3782T>C
XR_950345.1:n.151+5363T>C
XM_011545253.2:c.847A>G XP_011543555.1:p.Thr283Ala
XM_017018302.2:c.847A>G XP_016873791.1:p.Thr283Ala
XM_017018303.1:c.166A>G XP_016873792.1:p.Thr56Ala
XM_017018304.2:c.166A>G XP_016873793.1:p.Thr56Ala
XR_001747963.2:n.1201A>G
XR_001747964.2:n.1201A>G
XR_001747965.2:n.1201A>G
XR_001747966.2:n.1201A>G
XR_001748314.1:n.3035+3782T>C
NM_024678.6:c.847A>G MANE Select NP_078954.4:p.Thr283Ala
NM_001243251.2:c.166A>G NP_001230180.1:p.Thr56Ala