Canonical Allele Identifier: CA382177137

Gene: NARS2

Linked Data

• gnomAD v4: 11-78478671-G-T
• MyVariant Identifiers: chr11:g.78189717G>T (hg19) ; chr11:g.78478671G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.78478671G>T , CM000673.2:g.78478671G>T	GRCh38
NC_000011.9:g.78189717G>T , CM000673.1:g.78189717G>T	GRCh37
NC_000011.8:g.77867365G>T	NCBI36
NG_042046.1:g.101194C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525345.6:n.325C>A
ENST00000529771.2:c.154C>A	ENSP00000435298.2:p.Leu52Met
ENST00000695114.1:n.3496C>A
ENST00000695115.1:c.154C>A	ENSP00000511705.1:p.Leu52Met
ENST00000695116.1:c.142-9358C>A	ENSP00000511706.1:n.142-9358C>A
ENST00000695341.1:c.*505C>A	ENSP00000511816.1:n.*505C>A
ENST00000695342.1:c.154C>A	ENSP00000511817.1:p.Leu52Met
ENST00000695343.1:c.154C>A	ENSP00000511818.1:p.Leu52Met
ENST00000695344.1:c.754C>A	ENSP00000511819.1:p.Leu252Met
ENST00000695345.1:c.154C>A	ENSP00000511820.1:p.Leu52Met
ENST00000695346.1:c.*252C>A	ENSP00000511821.1:n.*252C>A
ENST00000695347.1:c.*307C>A	ENSP00000511822.1:n.*307C>A
ENST00000695348.1:c.154C>A	ENSP00000511823.1:p.Leu52Met
ENST00000695349.1:c.835C>A	ENSP00000511824.1:p.Leu279Met
ENST00000695350.1:c.*6C>A	ENSP00000511825.1:n.*6C>A
ENST00000695351.1:c.823-12658C>A	ENSP00000511826.1:n.823-12658C>A
ENST00000695352.1:c.-18C>A	ENSP00000511827.1:n.-18C>A
ENST00000695353.1:c.-105-12658C>A	ENSP00000511828.1:n.-105-12658C>A
ENST00000695354.1:c.835C>A	ENSP00000511829.1:p.Leu279Met
ENST00000695355.1:c.835C>A	ENSP00000511830.1:p.Leu279Met
ENST00000695356.1:c.*816C>A	ENSP00000511831.1:n.*816C>A
ENST00000695357.1:c.835C>A	ENSP00000511832.1:p.Leu279Met
ENST00000695358.1:c.835C>A	ENSP00000511833.1:p.Leu279Met
ENST00000695359.1:c.*492C>A	ENSP00000511834.1:n.*492C>A
ENST00000695360.1:c.835C>A	ENSP00000511835.1:p.Leu279Met
ENST00000695361.1:c.*89-9358C>A	ENSP00000511836.1:n.*89-9358C>A
ENST00000695362.1:c.*155C>A	ENSP00000511837.1:n.*155C>A
ENST00000695364.1:n.1173C>A
ENST00000695365.1:n.1125C>A
ENST00000695366.1:c.835C>A	ENSP00000511838.1:p.Leu279Met
ENST00000281038.10:c.835C>A MANE Select	ENSP00000281038.5:p.Leu279Met
ENST00000281038.9:c.835C>A	ENSP00000281038.5:p.Leu279Met
ENST00000525345.5:c.325C>A
ENST00000528850.5:c.154C>A	ENSP00000432635.1:p.Leu52Met
ENST00000529880.1:c.595-12658C>A	ENSP00000432240.1:n.595-12658C>A
NM_001243251.1:c.154C>A	NP_001230180.1:p.Leu52Met
NM_024678.5:c.835C>A	NP_078954.4:p.Leu279Met
XM_011545253.1:c.835C>A	XP_011543555.1:p.Leu279Met
XR_950050.1:n.1204C>A
XR_950051.1:n.1204C>A
XR_950344.1:n.199+3794G>T
XR_950345.1:n.151+5375G>T
XM_011545253.2:c.835C>A	XP_011543555.1:p.Leu279Met
XM_017018302.2:c.835C>A	XP_016873791.1:p.Leu279Met
XM_017018303.1:c.154C>A	XP_016873792.1:p.Leu52Met
XM_017018304.2:c.154C>A	XP_016873793.1:p.Leu52Met
XR_001747963.2:n.1189C>A
XR_001747964.2:n.1189C>A
XR_001747965.2:n.1189C>A
XR_001747966.2:n.1189C>A
XR_001748314.1:n.3035+3794G>T
NM_024678.6:c.835C>A MANE Select	NP_078954.4:p.Leu279Met
NM_001243251.2:c.154C>A	NP_001230180.1:p.Leu52Met