Canonical Allele Identifier: CA382177034

Gene: NARS2

Linked Data

• MyVariant Identifiers: chr11:g.78189669C>G (hg19) ; chr11:g.78478623C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78478623C>G , CM000673.2:g.78478623C>G	GRCh38
NC_000011.9:g.78189669C>G , CM000673.1:g.78189669C>G	GRCh37
NC_000011.8:g.77867317C>G	NCBI36
NG_042046.1:g.101242G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525345.6:n.373G>C
ENST00000529771.2:c.202G>C	ENSP00000435298.2:p.Val68Leu
ENST00000695114.1:n.3544G>C
ENST00000695115.1:c.202G>C	ENSP00000511705.1:p.Val68Leu
ENST00000695116.1:c.142-9310G>C	ENSP00000511706.1:n.142-9310G>C
ENST00000695341.1:c.*553G>C	ENSP00000511816.1:n.*553G>C
ENST00000695342.1:c.202G>C	ENSP00000511817.1:p.Val68Leu
ENST00000695343.1:c.202G>C	ENSP00000511818.1:p.Val68Leu
ENST00000695344.1:c.802G>C	ENSP00000511819.1:p.Val268Leu
ENST00000695345.1:c.202G>C	ENSP00000511820.1:p.Val68Leu
ENST00000695346.1:c.*300G>C	ENSP00000511821.1:n.*300G>C
ENST00000695347.1:c.*355G>C	ENSP00000511822.1:n.*355G>C
ENST00000695348.1:c.202G>C	ENSP00000511823.1:p.Val68Leu
ENST00000695349.1:c.883G>C	ENSP00000511824.1:p.Val295Leu
ENST00000695350.1:c.*54G>C	ENSP00000511825.1:n.*54G>C
ENST00000695351.1:c.823-12610G>C	ENSP00000511826.1:n.823-12610G>C
ENST00000695352.1:c.31G>C	ENSP00000511827.1:p.Val11Leu
ENST00000695353.1:c.-105-12610G>C	ENSP00000511828.1:n.-105-12610G>C
ENST00000695354.1:c.883G>C	ENSP00000511829.1:p.Val295Leu
ENST00000695355.1:c.883G>C	ENSP00000511830.1:p.Val295Leu
ENST00000695356.1:c.*864G>C	ENSP00000511831.1:n.*864G>C
ENST00000695357.1:c.883G>C	ENSP00000511832.1:p.Val295Leu
ENST00000695358.1:c.883G>C	ENSP00000511833.1:p.Val295Leu
ENST00000695359.1:c.*540G>C	ENSP00000511834.1:n.*540G>C
ENST00000695360.1:c.883G>C	ENSP00000511835.1:p.Val295Leu
ENST00000695361.1:c.*89-9310G>C	ENSP00000511836.1:n.*89-9310G>C
ENST00000695362.1:c.*203G>C	ENSP00000511837.1:n.*203G>C
ENST00000695364.1:n.1221G>C
ENST00000695365.1:n.1173G>C
ENST00000695366.1:c.883G>C	ENSP00000511838.1:p.Val295Leu
ENST00000281038.10:c.883G>C MANE Select	ENSP00000281038.5:p.Val295Leu
ENST00000281038.9:c.883G>C	ENSP00000281038.5:p.Val295Leu
ENST00000525345.5:c.373G>C
ENST00000528850.5:c.202G>C	ENSP00000432635.1:p.Val68Leu
ENST00000529880.1:c.595-12610G>C	ENSP00000432240.1:n.595-12610G>C
NM_001243251.1:c.202G>C	NP_001230180.1:p.Val68Leu
NM_024678.5:c.883G>C	NP_078954.4:p.Val295Leu
XM_011545253.1:c.883G>C	XP_011543555.1:p.Val295Leu
XR_950050.1:n.1252G>C
XR_950051.1:n.1252G>C
XR_950344.1:n.199+3746C>G
XR_950345.1:n.151+5327C>G
XM_011545253.2:c.883G>C	XP_011543555.1:p.Val295Leu
XM_017018302.2:c.883G>C	XP_016873791.1:p.Val295Leu
XM_017018303.1:c.202G>C	XP_016873792.1:p.Val68Leu
XM_017018304.2:c.202G>C	XP_016873793.1:p.Val68Leu
XR_001747963.2:n.1237G>C
XR_001747964.2:n.1237G>C
XR_001747965.2:n.1237G>C
XR_001747966.2:n.1237G>C
XR_001748314.1:n.3035+3746C>G
NM_024678.6:c.883G>C MANE Select	NP_078954.4:p.Val295Leu
NM_001243251.2:c.202G>C	NP_001230180.1:p.Val68Leu