Canonical Allele Identifier: CA382176960

Gene: NARS2

Linked Data

• gnomAD v4: 11-78478590-G-A
• MyVariant Identifiers: chr11:g.78189636G>A (hg19) ; chr11:g.78478590G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78478590G>A , CM000673.2:g.78478590G>A	GRCh38
NC_000011.9:g.78189636G>A , CM000673.1:g.78189636G>A	GRCh37
NC_000011.8:g.77867284G>A	NCBI36
NG_042046.1:g.101275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525345.6:n.406C>T
ENST00000529771.2:c.235C>T	ENSP00000435298.2:p.Gln79Ter
ENST00000695114.1:n.3577C>T
ENST00000695115.1:c.235C>T	ENSP00000511705.1:p.Gln79Ter
ENST00000695116.1:c.142-9277C>T	ENSP00000511706.1:n.142-9277C>T
ENST00000695341.1:c.*586C>T	ENSP00000511816.1:n.*586C>T
ENST00000695342.1:c.235C>T	ENSP00000511817.1:p.Gln79Ter
ENST00000695343.1:c.235C>T	ENSP00000511818.1:p.Gln79Ter
ENST00000695344.1:c.835C>T	ENSP00000511819.1:p.Gln279Ter
ENST00000695345.1:c.235C>T	ENSP00000511820.1:p.Gln79Ter
ENST00000695346.1:c.*333C>T	ENSP00000511821.1:n.*333C>T
ENST00000695347.1:c.*388C>T	ENSP00000511822.1:n.*388C>T
ENST00000695348.1:c.235C>T	ENSP00000511823.1:p.Gln79Ter
ENST00000695349.1:c.916C>T	ENSP00000511824.1:p.Gln306Ter
ENST00000695350.1:c.*87C>T	ENSP00000511825.1:n.*87C>T
ENST00000695351.1:c.823-12577C>T	ENSP00000511826.1:n.823-12577C>T
ENST00000695352.1:c.64C>T	ENSP00000511827.1:p.Gln22Ter
ENST00000695353.1:c.-105-12577C>T	ENSP00000511828.1:n.-105-12577C>T
ENST00000695354.1:c.916C>T	ENSP00000511829.1:p.Gln306Ter
ENST00000695355.1:c.916C>T	ENSP00000511830.1:p.Gln306Ter
ENST00000695356.1:c.*897C>T	ENSP00000511831.1:n.*897C>T
ENST00000695357.1:c.916C>T	ENSP00000511832.1:p.Gln306Ter
ENST00000695358.1:c.916C>T	ENSP00000511833.1:p.Gln306Ter
ENST00000695359.1:c.*573C>T	ENSP00000511834.1:n.*573C>T
ENST00000695360.1:c.916C>T	ENSP00000511835.1:p.Gln306Ter
ENST00000695361.1:c.*89-9277C>T	ENSP00000511836.1:n.*89-9277C>T
ENST00000695362.1:c.*236C>T	ENSP00000511837.1:n.*236C>T
ENST00000695364.1:n.1254C>T
ENST00000695365.1:n.1206C>T
ENST00000695366.1:c.916C>T	ENSP00000511838.1:p.Gln306Ter
ENST00000281038.10:c.916C>T MANE Select	ENSP00000281038.5:p.Gln306Ter
ENST00000281038.9:c.916C>T	ENSP00000281038.5:p.Gln306Ter
ENST00000525345.5:c.406C>T
ENST00000528850.5:c.235C>T	ENSP00000432635.1:p.Gln79Ter
ENST00000529880.1:c.595-12577C>T	ENSP00000432240.1:n.595-12577C>T
NM_001243251.1:c.235C>T	NP_001230180.1:p.Gln79Ter
NM_024678.5:c.916C>T	NP_078954.4:p.Gln306Ter
XM_011545253.1:c.916C>T	XP_011543555.1:p.Gln306Ter
XR_950050.1:n.1285C>T
XR_950051.1:n.1285C>T
XR_950344.1:n.199+3713G>A
XR_950345.1:n.151+5294G>A
XM_011545253.2:c.916C>T	XP_011543555.1:p.Gln306Ter
XM_017018302.2:c.916C>T	XP_016873791.1:p.Gln306Ter
XM_017018303.1:c.235C>T	XP_016873792.1:p.Gln79Ter
XM_017018304.2:c.235C>T	XP_016873793.1:p.Gln79Ter
XR_001747963.2:n.1270C>T
XR_001747964.2:n.1270C>T
XR_001747965.2:n.1270C>T
XR_001747966.2:n.1270C>T
XR_001748314.1:n.3035+3713G>A
NM_024678.6:c.916C>T MANE Select	NP_078954.4:p.Gln306Ter
NM_001243251.2:c.235C>T	NP_001230180.1:p.Gln79Ter