Canonical Allele Identifier: CA382180666

Gene: NARS2

Linked Data

• MyVariant Identifiers: chr11:g.78285415C>G (hg19) ; chr11:g.78574370C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78574370C>G , CM000673.2:g.78574370C>G	GRCh38
NC_000011.9:g.78285415C>G , CM000673.1:g.78285415C>G	GRCh37
NC_000011.8:g.77963063C>G	NCBI36
NG_042046.1:g.5495G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000529771.2:c.-541+459G>C	ENSP00000435298.2:n.-541+459G>C
ENST00000695114.1:n.421G>C
ENST00000695115.1:c.-633+459G>C	ENSP00000511705.1:n.-633+459G>C
ENST00000695116.1:c.-541+459G>C	ENSP00000511706.1:n.-541+459G>C
ENST00000695117.1:n.36+459G>C
ENST00000695341.1:c.119G>C	ENSP00000511816.1:p.Ser40Thr
ENST00000695342.1:c.-541+420G>C	ENSP00000511817.1:n.-541+420G>C
ENST00000695343.1:c.-804+459G>C	ENSP00000511818.1:n.-804+459G>C
ENST00000695344.1:c.119G>C	ENSP00000511819.1:p.Ser40Thr
ENST00000695345.1:c.-541+459G>C	ENSP00000511820.1:n.-541+459G>C
ENST00000695346.1:c.119G>C	ENSP00000511821.1:p.Ser40Thr
ENST00000695347.1:c.119G>C	ENSP00000511822.1:p.Ser40Thr
ENST00000695348.1:c.-460+459G>C	ENSP00000511823.1:n.-460+459G>C
ENST00000695349.1:c.119G>C	ENSP00000511824.1:p.Ser40Thr
ENST00000695350.1:c.119G>C	ENSP00000511825.1:p.Ser40Thr
ENST00000695351.1:c.119G>C	ENSP00000511826.1:p.Ser40Thr
ENST00000695352.1:c.-579+459G>C	ENSP00000511827.1:n.-579+459G>C
ENST00000695353.1:c.-654+459G>C	ENSP00000511828.1:n.-654+459G>C
ENST00000695354.1:c.119G>C	ENSP00000511829.1:p.Ser40Thr
ENST00000695355.1:c.119G>C	ENSP00000511830.1:p.Ser40Thr
ENST00000695356.1:c.119G>C	ENSP00000511831.1:p.Ser40Thr
ENST00000695357.1:c.119G>C	ENSP00000511832.1:p.Ser40Thr
ENST00000695358.1:c.119G>C	ENSP00000511833.1:p.Ser40Thr
ENST00000695359.1:c.119G>C	ENSP00000511834.1:p.Ser40Thr
ENST00000695360.1:c.119G>C	ENSP00000511835.1:p.Ser40Thr
ENST00000695361.1:c.119G>C	ENSP00000511836.1:p.Ser40Thr
ENST00000695362.1:c.119G>C	ENSP00000511837.1:p.Ser40Thr
ENST00000695364.1:n.457G>C
ENST00000695365.1:n.409G>C
ENST00000695366.1:c.119G>C	ENSP00000511838.1:p.Ser40Thr
ENST00000281038.10:c.119G>C MANE Select	ENSP00000281038.5:p.Ser40Thr
ENST00000281038.9:c.119G>C	ENSP00000281038.5:p.Ser40Thr
ENST00000529571.1:c.-541+459G>C	ENSP00000433478.1:n.-541+459G>C
ENST00000529880.1:c.119G>C	ENSP00000432240.1:p.Ser40Thr
NM_001243251.1:c.-541+459G>C	NP_001230180.1:n.-541+459G>C
NM_024678.5:c.119G>C	NP_078954.4:p.Ser40Thr
XM_011545253.1:c.119G>C	XP_011543555.1:p.Ser40Thr
XR_950050.1:n.488G>C
XR_950051.1:n.488G>C
XM_011545253.2:c.119G>C	XP_011543555.1:p.Ser40Thr
XM_017018302.2:c.119G>C	XP_016873791.1:p.Ser40Thr
XM_017018303.1:c.-613+459G>C	XP_016873792.1:n.-613+459G>C
XM_017018304.2:c.-541+459G>C	XP_016873793.1:n.-541+459G>C
XR_001747963.2:n.473G>C
XR_001747964.2:n.473G>C
XR_001747965.2:n.473G>C
XR_001747966.2:n.473G>C
NM_024678.6:c.119G>C MANE Select	NP_078954.4:p.Ser40Thr
NM_001243251.2:c.-541+459G>C	NP_001230180.1:n.-541+459G>C