Canonical Allele Identifier: CA824984988

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1396258415
• MyVariant Identifiers: chr6:g.44270553del (hg19) ; chr6:g.44302816del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302819del , CM000668.2:g.44302819del	GRCh38
NC_000006.11:g.44270556del , CM000668.1:g.44270556del	GRCh37
NC_000006.10:g.44378534del	NCBI36
NG_031952.1:g.15511del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2350del (AARS2) MANE Select	ENSP00000244571.4:p.Glu784SerfsTer9
ENST00000244571.4:c.2350del (AARS2)	ENSP00000244571.4:p.Glu784SerfsTer9
ENST00000438774.2:c.577-4124del (TMEM151B)	ENSP00000409337.2:n.577-4124del
ENST00000505802.1:c.314-4124del
NM_020745.3:c.2350del (AARS2)	NP_065796.1:p.Glu784SerfsTer9
XM_005249245.2:c.2059del (AARS2)	XP_005249302.1:p.Glu687SerfsTer9
XM_011514764.1:c.2350del (AARS2)	XP_011513066.1:p.Glu784SerfsTer9
XR_241907.2:n.2275del (AARS2)
XM_005249245.3:c.2059del (AARS2)	XP_005249302.1:p.Glu687SerfsTer9
XM_011514764.2:c.2350del (AARS2)	XP_011513066.1:p.Glu784SerfsTer9
XM_017011112.1:c.1060del (AARS2)	XP_016866601.1:p.Glu354SerfsTer9
NM_020745.4:c.2350del (AARS2) MANE Select	NP_065796.2:p.Glu784SerfsTer9
NM_001318876.2:c.946-139071del (POLR1C)	NP_001305805.1:n.946-139071del