Canonical Allele Identifier: CA382177164

Gene: NARS2

Linked Data

• MyVariant Identifiers: chr11:g.78189729C>G (hg19) ; chr11:g.78478683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78478683C>G , CM000673.2:g.78478683C>G	GRCh38
NC_000011.9:g.78189729C>G , CM000673.1:g.78189729C>G	GRCh37
NC_000011.8:g.77867377C>G	NCBI36
NG_042046.1:g.101182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525345.6:n.313G>C
ENST00000529771.2:c.142G>C	ENSP00000435298.2:p.Val48Leu
ENST00000695114.1:n.3484G>C
ENST00000695115.1:c.142G>C	ENSP00000511705.1:p.Val48Leu
ENST00000695116.1:c.142-9370G>C	ENSP00000511706.1:n.142-9370G>C
ENST00000695341.1:c.*493G>C	ENSP00000511816.1:n.*493G>C
ENST00000695342.1:c.142G>C	ENSP00000511817.1:p.Val48Leu
ENST00000695343.1:c.142G>C	ENSP00000511818.1:p.Val48Leu
ENST00000695344.1:c.742G>C	ENSP00000511819.1:p.Val248Leu
ENST00000695345.1:c.142G>C	ENSP00000511820.1:p.Val48Leu
ENST00000695346.1:c.*240G>C	ENSP00000511821.1:n.*240G>C
ENST00000695347.1:c.*295G>C	ENSP00000511822.1:n.*295G>C
ENST00000695348.1:c.142G>C	ENSP00000511823.1:p.Val48Leu
ENST00000695349.1:c.823G>C	ENSP00000511824.1:p.Val275Leu
ENST00000695350.1:c.609G>C	ENSP00000511825.1:p.Gly203=
ENST00000695351.1:c.823-12670G>C	ENSP00000511826.1:n.823-12670G>C
ENST00000695352.1:c.-30G>C	ENSP00000511827.1:n.-30G>C
ENST00000695353.1:c.-105-12670G>C	ENSP00000511828.1:n.-105-12670G>C
ENST00000695354.1:c.823G>C	ENSP00000511829.1:p.Val275Leu
ENST00000695355.1:c.823G>C	ENSP00000511830.1:p.Val275Leu
ENST00000695356.1:c.*804G>C	ENSP00000511831.1:n.*804G>C
ENST00000695357.1:c.823G>C	ENSP00000511832.1:p.Val275Leu
ENST00000695358.1:c.823G>C	ENSP00000511833.1:p.Val275Leu
ENST00000695359.1:c.*480G>C	ENSP00000511834.1:n.*480G>C
ENST00000695360.1:c.823G>C	ENSP00000511835.1:p.Val275Leu
ENST00000695361.1:c.*89-9370G>C	ENSP00000511836.1:n.*89-9370G>C
ENST00000695362.1:c.*143G>C	ENSP00000511837.1:n.*143G>C
ENST00000695364.1:n.1161G>C
ENST00000695365.1:n.1113G>C
ENST00000695366.1:c.823G>C	ENSP00000511838.1:p.Val275Leu
ENST00000281038.10:c.823G>C MANE Select	ENSP00000281038.5:p.Val275Leu
ENST00000281038.9:c.823G>C	ENSP00000281038.5:p.Val275Leu
ENST00000525345.5:c.313G>C
ENST00000528850.5:c.142G>C	ENSP00000432635.1:p.Val48Leu
ENST00000529880.1:c.595-12670G>C	ENSP00000432240.1:n.595-12670G>C
NM_001243251.1:c.142G>C	NP_001230180.1:p.Val48Leu
NM_024678.5:c.823G>C	NP_078954.4:p.Val275Leu
XM_011545253.1:c.823G>C	XP_011543555.1:p.Val275Leu
XR_950050.1:n.1192G>C
XR_950051.1:n.1192G>C
XR_950344.1:n.199+3806C>G
XR_950345.1:n.151+5387C>G
XM_011545253.2:c.823G>C	XP_011543555.1:p.Val275Leu
XM_017018302.2:c.823G>C	XP_016873791.1:p.Val275Leu
XM_017018303.1:c.142G>C	XP_016873792.1:p.Val48Leu
XM_017018304.2:c.142G>C	XP_016873793.1:p.Val48Leu
XR_001747963.2:n.1177G>C
XR_001747964.2:n.1177G>C
XR_001747965.2:n.1177G>C
XR_001747966.2:n.1177G>C
XR_001748314.1:n.3035+3806C>G
NM_024678.6:c.823G>C MANE Select	NP_078954.4:p.Val275Leu
NM_001243251.2:c.142G>C	NP_001230180.1:p.Val48Leu