Canonical Allele Identifier: CA382178463

Gene: NARS2

Linked Data

• ClinVar Variation Id: 522914
• ClinVar RCV Id: RCV000626109
• dbSNP Id: rs751383065
• MyVariant Identifiers: chr11:g.78147844G>C (hg19) ; chr11:g.78436798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78436798G>C , CM000673.2:g.78436798G>C	GRCh38
NC_000011.9:g.78147844G>C , CM000673.1:g.78147844G>C	GRCh37
NC_000011.8:g.77825492G>C	NCBI36
NG_042046.1:g.143067C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525345.6:n.796C>G
ENST00000529771.2:c.598C>G	ENSP00000435298.2:p.Arg200Gly
ENST00000695114.1:n.3967C>G
ENST00000695115.1:c.625C>G	ENSP00000511705.1:p.Arg209Gly
ENST00000695116.1:c.*332C>G	ENSP00000511706.1:n.*332C>G
ENST00000695341.1:c.*3514C>G	ENSP00000511816.1:n.*3514C>G
ENST00000695342.1:c.625C>G	ENSP00000511817.1:p.Arg209Gly
ENST00000695343.1:c.625C>G	ENSP00000511818.1:p.Arg209Gly
ENST00000695344.1:c.1198C>G	ENSP00000511819.1:p.Arg400Gly
ENST00000695345.1:c.*1821C>G	ENSP00000511820.1:n.*1821C>G
ENST00000695346.1:c.*723C>G	ENSP00000511821.1:n.*723C>G
ENST00000695347.1:c.*778C>G	ENSP00000511822.1:n.*778C>G
ENST00000695348.1:c.625C>G	ENSP00000511823.1:p.Arg209Gly
ENST00000695349.1:c.*134C>G	ENSP00000511824.1:n.*134C>G
ENST00000695350.1:c.*477C>G	ENSP00000511825.1:n.*477C>G
ENST00000695351.1:c.1102C>G	ENSP00000511826.1:p.Arg368Gly
ENST00000695352.1:c.427C>G	ENSP00000511827.1:p.Arg143Gly
ENST00000695353.1:c.175C>G	ENSP00000511828.1:p.Arg59Gly
ENST00000695354.1:c.*1794C>G	ENSP00000511829.1:n.*1794C>G
ENST00000695355.1:c.*188C>G	ENSP00000511830.1:n.*188C>G
ENST00000695356.1:c.*1255C>G	ENSP00000511831.1:n.*1255C>G
ENST00000695357.1:c.*60C>G	ENSP00000511832.1:n.*60C>G
ENST00000695358.1:c.*44C>G	ENSP00000511833.1:n.*44C>G
ENST00000695359.1:c.*936C>G	ENSP00000511834.1:n.*936C>G
ENST00000695360.1:c.1402C>G	ENSP00000511835.1:p.Arg468Gly
ENST00000695361.1:c.*484C>G	ENSP00000511836.1:n.*484C>G
ENST00000695362.1:c.*599C>G	ENSP00000511837.1:n.*599C>G
ENST00000695363.1:n.1258C>G
ENST00000695366.1:c.*169C>G	ENSP00000511838.1:n.*169C>G
ENST00000281038.10:c.1306C>G MANE Select	ENSP00000281038.5:p.Arg436Gly
ENST00000281038.9:c.1306C>G	ENSP00000281038.5:p.Arg436Gly
ENST00000525345.5:c.796C>G
ENST00000528850.5:c.625C>G	ENSP00000432635.1:p.Arg209Gly
ENST00000529771.1:c.116C>G
NM_001243251.1:c.625C>G	NP_001230180.1:p.Arg209Gly
NM_024678.5:c.1306C>G	NP_078954.4:p.Arg436Gly
XM_011545253.1:c.1279C>G	XP_011543555.1:p.Arg427Gly
XM_011545253.2:c.1279C>G	XP_011543555.1:p.Arg427Gly
XM_017018303.1:c.625C>G	XP_016873792.1:p.Arg209Gly
XM_017018304.2:c.598C>G	XP_016873793.1:p.Arg200Gly
XR_001747963.2:n.3333C>G
XR_001747964.2:n.1655C>G
XR_001747965.2:n.1628C>G
XR_001747966.2:n.1622C>G
NM_024678.6:c.1306C>G MANE Select	NP_078954.4:p.Arg436Gly
NM_001243251.2:c.625C>G	NP_001230180.1:p.Arg209Gly