Canonical Allele Identifier: CA476050292
Gene: NARS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.78189727A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.78478681A>G , CM000673.2:g.78478681A>G GRCh38
NC_000011.9:g.78189727A>G , CM000673.1:g.78189727A>G GRCh37
NC_000011.8:g.77867375A>G NCBI36
NG_042046.1:g.101184T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525345.6:n.315T>C
ENST00000529771.2:c.144T>C ENSP00000435298.2:p.Val48=
ENST00000695114.1:n.3486T>C
ENST00000695115.1:c.144T>C ENSP00000511705.1:p.Val48=
ENST00000695116.1:c.142-9368T>C ENSP00000511706.1:n.142-9368T>C
ENST00000695341.1:c.*495T>C ENSP00000511816.1:n.*495T>C
ENST00000695342.1:c.144T>C ENSP00000511817.1:p.Val48=
ENST00000695343.1:c.144T>C ENSP00000511818.1:p.Val48=
ENST00000695344.1:c.744T>C ENSP00000511819.1:p.Val248=
ENST00000695345.1:c.144T>C ENSP00000511820.1:p.Val48=
ENST00000695346.1:c.*242T>C ENSP00000511821.1:n.*242T>C
ENST00000695347.1:c.*297T>C ENSP00000511822.1:n.*297T>C
ENST00000695348.1:c.144T>C ENSP00000511823.1:p.Val48=
ENST00000695349.1:c.825T>C ENSP00000511824.1:p.Val275=
ENST00000695350.1:c.611T>C ENSP00000511825.1:p.Leu204Ser
ENST00000695351.1:c.823-12668T>C ENSP00000511826.1:n.823-12668T>C
ENST00000695352.1:c.-28T>C ENSP00000511827.1:n.-28T>C
ENST00000695353.1:c.-105-12668T>C ENSP00000511828.1:n.-105-12668T>C
ENST00000695354.1:c.825T>C ENSP00000511829.1:p.Val275=
ENST00000695355.1:c.825T>C ENSP00000511830.1:p.Val275=
ENST00000695356.1:c.*806T>C ENSP00000511831.1:n.*806T>C
ENST00000695357.1:c.825T>C ENSP00000511832.1:p.Val275=
ENST00000695358.1:c.825T>C ENSP00000511833.1:p.Val275=
ENST00000695359.1:c.*482T>C ENSP00000511834.1:n.*482T>C
ENST00000695360.1:c.825T>C ENSP00000511835.1:p.Val275=
ENST00000695361.1:c.*89-9368T>C ENSP00000511836.1:n.*89-9368T>C
ENST00000695362.1:c.*145T>C ENSP00000511837.1:n.*145T>C
ENST00000695364.1:n.1163T>C
ENST00000695365.1:n.1115T>C
ENST00000695366.1:c.825T>C ENSP00000511838.1:p.Val275=
ENST00000281038.10:c.825T>C MANE Select ENSP00000281038.5:p.Val275=
ENST00000281038.9:c.825T>C ENSP00000281038.5:p.Val275=
ENST00000525345.5:c.315T>C
ENST00000528850.5:c.144T>C ENSP00000432635.1:p.Val48=
ENST00000529880.1:c.595-12668T>C ENSP00000432240.1:n.595-12668T>C
NM_001243251.1:c.144T>C NP_001230180.1:p.Val48=
NM_024678.5:c.825T>C NP_078954.4:p.Val275=
XM_011545253.1:c.825T>C XP_011543555.1:p.Val275=
XR_950050.1:n.1194T>C
XR_950051.1:n.1194T>C
XR_950344.1:n.199+3804A>G
XR_950345.1:n.151+5385A>G
XM_011545253.2:c.825T>C XP_011543555.1:p.Val275=
XM_017018302.2:c.825T>C XP_016873791.1:p.Val275=
XM_017018303.1:c.144T>C XP_016873792.1:p.Val48=
XM_017018304.2:c.144T>C XP_016873793.1:p.Val48=
XR_001747963.2:n.1179T>C
XR_001747964.2:n.1179T>C
XR_001747965.2:n.1179T>C
XR_001747966.2:n.1179T>C
XR_001748314.1:n.3035+3804A>G
NM_024678.6:c.825T>C MANE Select NP_078954.4:p.Val275=
NM_001243251.2:c.144T>C NP_001230180.1:p.Val48=