Canonical Allele Identifier: CA2841438413

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300702del , CM000668.2:g.44300702del	GRCh38
NC_000006.11:g.44268439del , CM000668.1:g.44268439del	GRCh37
NC_000006.10:g.44376417del	NCBI36
NG_031952.1:g.17627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2805del (AARS2) MANE Select	ENSP00000244571.4:p.Thr936ProfsTer?
ENST00000244571.4:c.2805del (AARS2)	ENSP00000244571.4:p.Thr936ProfsTer?
ENST00000438774.2:c.577-6241del (TMEM151B)	ENSP00000409337.2:n.577-6241del
ENST00000491573.1:n.607del (AARS2)
ENST00000505802.1:c.314-6241del
NM_020745.3:c.2805del (AARS2)	NP_065796.1:p.Thr936ProfsTer?
XM_005249245.2:c.2514del (AARS2)	XP_005249302.1:p.Thr839ProfsTer?
XM_011514764.1:c.2793+456del (AARS2)	XP_011513066.1:n.2793+456del
XR_241907.2:n.2730del (AARS2)
XM_005249245.3:c.2514del (AARS2)	XP_005249302.1:p.Thr839ProfsTer?
XM_011514764.2:c.2793+456del (AARS2)	XP_011513066.1:n.2793+456del
XM_017011112.1:c.1515del (AARS2)	XP_016866601.1:p.Thr506ProfsTer?
NM_020745.4:c.2805del (AARS2) MANE Select	NP_065796.2:p.Thr936ProfsTer?
NM_001318876.2:c.946-141188del (POLR1C)	NP_001305805.1:n.946-141188del