Canonical Allele Identifier: CA6205929

Gene: NARS2

Linked Data

• ClinVar Variation Id: 1988177
• ClinVar RCV Id: RCV002781167
• dbSNP Id: rs751315158
• ExAC: 11:78282471 G / A
• gnomAD v2: 11-78282471-G-A
• gnomAD v3: 11-78571426-G-A
• gnomAD v4: 11-78571426-G-A
• MyVariant Identifiers: chr11:g.78282471G>A (hg19) ; chr11:g.78571426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78571426G>A , CM000673.2:g.78571426G>A	GRCh38
NC_000011.9:g.78282471G>A , CM000673.1:g.78282471G>A	GRCh37
NC_000011.8:g.77960119G>A	NCBI36
NG_042046.1:g.8439C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529771.2:c.-522C>T	ENSP00000435298.2:n.-522C>T
ENST00000695114.1:n.462C>T
ENST00000695115.1:c.-614C>T	ENSP00000511705.1:n.-614C>T
ENST00000695116.1:c.-522C>T	ENSP00000511706.1:n.-522C>T
ENST00000695117.1:n.55C>T
ENST00000695341.1:c.278C>T	ENSP00000511816.1:p.Pro93Leu
ENST00000695342.1:c.-522C>T	ENSP00000511817.1:n.-522C>T
ENST00000695343.1:c.-522C>T	ENSP00000511818.1:n.-522C>T
ENST00000695344.1:c.160C>T	ENSP00000511819.1:p.Arg54Ter
ENST00000695345.1:c.-522C>T	ENSP00000511820.1:n.-522C>T
ENST00000695346.1:c.160C>T	ENSP00000511821.1:p.Arg54Ter
ENST00000695347.1:c.160C>T	ENSP00000511822.1:p.Arg54Ter
ENST00000695348.1:c.-441C>T	ENSP00000511823.1:n.-441C>T
ENST00000695349.1:c.160C>T	ENSP00000511824.1:p.Arg54Ter
ENST00000695350.1:c.160C>T	ENSP00000511825.1:p.Arg54Ter
ENST00000695351.1:c.160C>T	ENSP00000511826.1:p.Arg54Ter
ENST00000695352.1:c.-560C>T	ENSP00000511827.1:n.-560C>T
ENST00000695353.1:c.-635C>T	ENSP00000511828.1:n.-635C>T
ENST00000695354.1:c.160C>T	ENSP00000511829.1:p.Arg54Ter
ENST00000695355.1:c.160C>T	ENSP00000511830.1:p.Arg54Ter
ENST00000695356.1:c.*141C>T	ENSP00000511831.1:n.*141C>T
ENST00000695357.1:c.160C>T	ENSP00000511832.1:p.Arg54Ter
ENST00000695358.1:c.160C>T	ENSP00000511833.1:p.Arg54Ter
ENST00000695359.1:c.160C>T	ENSP00000511834.1:p.Arg54Ter
ENST00000695360.1:c.160C>T	ENSP00000511835.1:p.Arg54Ter
ENST00000695361.1:c.160C>T	ENSP00000511836.1:p.Arg54Ter
ENST00000695362.1:c.160C>T	ENSP00000511837.1:p.Arg54Ter
ENST00000695364.1:n.498C>T
ENST00000695365.1:n.450C>T
ENST00000695366.1:c.160C>T	ENSP00000511838.1:p.Arg54Ter
ENST00000281038.10:c.160C>T MANE Select	ENSP00000281038.5:p.Arg54Ter
ENST00000281038.9:c.160C>T	ENSP00000281038.5:p.Arg54Ter
ENST00000526709.1:n.245C>T
ENST00000528850.5:c.-522C>T	ENSP00000432635.1:n.-522C>T
ENST00000529571.1:c.-522C>T	ENSP00000433478.1:n.-522C>T
ENST00000529880.1:c.160C>T	ENSP00000432240.1:p.Arg54Ter
NM_001243251.1:c.-522C>T	NP_001230180.1:n.-522C>T
NM_024678.5:c.160C>T	NP_078954.4:p.Arg54Ter
XM_011545253.1:c.160C>T	XP_011543555.1:p.Arg54Ter
XR_950050.1:n.529C>T
XR_950051.1:n.529C>T
XM_011545253.2:c.160C>T	XP_011543555.1:p.Arg54Ter
XM_017018302.2:c.160C>T	XP_016873791.1:p.Arg54Ter
XM_017018303.1:c.-594C>T	XP_016873792.1:n.-594C>T
XM_017018304.2:c.-522C>T	XP_016873793.1:n.-522C>T
XR_001747963.2:n.514C>T
XR_001747964.2:n.514C>T
XR_001747965.2:n.514C>T
XR_001747966.2:n.514C>T
NM_024678.6:c.160C>T MANE Select	NP_078954.4:p.Arg54Ter
NM_001243251.2:c.-522C>T	NP_001230180.1:n.-522C>T