Canonical Allele Identifier: CA2678953031

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44302116-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302119_44302120del , CM000668.2:g.44302119_44302120del	GRCh38
NC_000006.11:g.44269856_44269857del , CM000668.1:g.44269856_44269857del	GRCh37
NC_000006.10:g.44377834_44377835del	NCBI36
NG_031952.1:g.16209_16210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2540_2541del (AARS2) MANE Select	ENSP00000244571.4:p.Thr847SerfsTer14
ENST00000244571.4:c.2540_2541del (AARS2)	ENSP00000244571.4:p.Thr847SerfsTer14
ENST00000438774.2:c.577-4824_577-4823del (TMEM151B)	ENSP00000409337.2:n.577-4824_577-4823del
ENST00000505802.1:c.314-4824_314-4823del
NM_020745.3:c.2540_2541del (AARS2)	NP_065796.1:p.Thr847SerfsTer14
XM_005249245.2:c.2249_2250del (AARS2)	XP_005249302.1:p.Thr750SerfsTer14
XM_011514764.1:c.2540_2541del (AARS2)	XP_011513066.1:p.Thr847SerfsTer14
XR_241907.2:n.2465_2466del (AARS2)
XM_005249245.3:c.2249_2250del (AARS2)	XP_005249302.1:p.Thr750SerfsTer14
XM_011514764.2:c.2540_2541del (AARS2)	XP_011513066.1:p.Thr847SerfsTer14
XM_017011112.1:c.1250_1251del (AARS2)	XP_016866601.1:p.Thr417SerfsTer14
NM_020745.4:c.2540_2541del (AARS2) MANE Select	NP_065796.2:p.Thr847SerfsTer14
NM_001318876.2:c.946-139771_946-139770del (POLR1C)	NP_001305805.1:n.946-139771_946-139770del