Canonical Allele Identifier: CA6205680

Gene: NARS2

Linked Data

• ClinVar Variation Id: 288867
• ClinVar RCV Id: RCV000404191 ; RCV001331334
• dbSNP Id: rs146900529
• ExAC: 11:78189708 C / T
• gnomAD v2: 11-78189708-C-T
• gnomAD v3: 11-78478662-C-T
• gnomAD v4: 11-78478662-C-T
• MyVariant Identifiers: chr11:g.78189708C>T (hg19) ; chr11:g.78478662C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78478662C>T , CM000673.2:g.78478662C>T	GRCh38
NC_000011.9:g.78189708C>T , CM000673.1:g.78189708C>T	GRCh37
NC_000011.8:g.77867356C>T	NCBI36
NG_042046.1:g.101203G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525345.6:n.334G>A
ENST00000529771.2:c.163G>A	ENSP00000435298.2:p.Ala55Thr
ENST00000695114.1:n.3505G>A
ENST00000695115.1:c.163G>A	ENSP00000511705.1:p.Ala55Thr
ENST00000695116.1:c.142-9349G>A	ENSP00000511706.1:n.142-9349G>A
ENST00000695341.1:c.*514G>A	ENSP00000511816.1:n.*514G>A
ENST00000695342.1:c.163G>A	ENSP00000511817.1:p.Ala55Thr
ENST00000695343.1:c.163G>A	ENSP00000511818.1:p.Ala55Thr
ENST00000695344.1:c.763G>A	ENSP00000511819.1:p.Ala255Thr
ENST00000695345.1:c.163G>A	ENSP00000511820.1:p.Ala55Thr
ENST00000695346.1:c.*261G>A	ENSP00000511821.1:n.*261G>A
ENST00000695347.1:c.*316G>A	ENSP00000511822.1:n.*316G>A
ENST00000695348.1:c.163G>A	ENSP00000511823.1:p.Ala55Thr
ENST00000695349.1:c.844G>A	ENSP00000511824.1:p.Ala282Thr
ENST00000695350.1:c.*15G>A	ENSP00000511825.1:n.*15G>A
ENST00000695351.1:c.823-12649G>A	ENSP00000511826.1:n.823-12649G>A
ENST00000695352.1:c.-9G>A	ENSP00000511827.1:n.-9G>A
ENST00000695353.1:c.-105-12649G>A	ENSP00000511828.1:n.-105-12649G>A
ENST00000695354.1:c.844G>A	ENSP00000511829.1:p.Ala282Thr
ENST00000695355.1:c.844G>A	ENSP00000511830.1:p.Ala282Thr
ENST00000695356.1:c.*825G>A	ENSP00000511831.1:n.*825G>A
ENST00000695357.1:c.844G>A	ENSP00000511832.1:p.Ala282Thr
ENST00000695358.1:c.844G>A	ENSP00000511833.1:p.Ala282Thr
ENST00000695359.1:c.*501G>A	ENSP00000511834.1:n.*501G>A
ENST00000695360.1:c.844G>A	ENSP00000511835.1:p.Ala282Thr
ENST00000695361.1:c.*89-9349G>A	ENSP00000511836.1:n.*89-9349G>A
ENST00000695362.1:c.*164G>A	ENSP00000511837.1:n.*164G>A
ENST00000695364.1:n.1182G>A
ENST00000695365.1:n.1134G>A
ENST00000695366.1:c.844G>A	ENSP00000511838.1:p.Ala282Thr
ENST00000281038.10:c.844G>A MANE Select	ENSP00000281038.5:p.Ala282Thr
ENST00000281038.9:c.844G>A	ENSP00000281038.5:p.Ala282Thr
ENST00000525345.5:c.334G>A
ENST00000528850.5:c.163G>A	ENSP00000432635.1:p.Ala55Thr
ENST00000529880.1:c.595-12649G>A	ENSP00000432240.1:n.595-12649G>A
NM_001243251.1:c.163G>A	NP_001230180.1:p.Ala55Thr
NM_024678.5:c.844G>A	NP_078954.4:p.Ala282Thr
XM_011545253.1:c.844G>A	XP_011543555.1:p.Ala282Thr
XR_950050.1:n.1213G>A
XR_950051.1:n.1213G>A
XR_950344.1:n.199+3785C>T
XR_950345.1:n.151+5366C>T
XM_011545253.2:c.844G>A	XP_011543555.1:p.Ala282Thr
XM_017018302.2:c.844G>A	XP_016873791.1:p.Ala282Thr
XM_017018303.1:c.163G>A	XP_016873792.1:p.Ala55Thr
XM_017018304.2:c.163G>A	XP_016873793.1:p.Ala55Thr
XR_001747963.2:n.1198G>A
XR_001747964.2:n.1198G>A
XR_001747965.2:n.1198G>A
XR_001747966.2:n.1198G>A
XR_001748314.1:n.3035+3785C>T
NM_024678.6:c.844G>A MANE Select	NP_078954.4:p.Ala282Thr
NM_001243251.2:c.163G>A	NP_001230180.1:p.Ala55Thr