Canonical Allele Identifier: CA2578633235

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302149del , CM000668.2:g.44302149del	GRCh38
NC_000006.11:g.44269886del , CM000668.1:g.44269886del	GRCh37
NC_000006.10:g.44377864del	NCBI36
NG_031952.1:g.16181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2512del (AARS2) MANE Select	ENSP00000244571.4:p.Gln838SerfsTer11
ENST00000244571.4:c.2512del (AARS2)	ENSP00000244571.4:p.Gln838SerfsTer11
ENST00000438774.2:c.577-4794del (TMEM151B)	ENSP00000409337.2:n.577-4794del
ENST00000505802.1:c.314-4794del
NM_020745.3:c.2512del (AARS2)	NP_065796.1:p.Gln838SerfsTer11
XM_005249245.2:c.2221del (AARS2)	XP_005249302.1:p.Gln741SerfsTer11
XM_011514764.1:c.2512del (AARS2)	XP_011513066.1:p.Gln838SerfsTer11
XR_241907.2:n.2437del (AARS2)
XM_005249245.3:c.2221del (AARS2)	XP_005249302.1:p.Gln741SerfsTer11
XM_011514764.2:c.2512del (AARS2)	XP_011513066.1:p.Gln838SerfsTer11
XM_017011112.1:c.1222del (AARS2)	XP_016866601.1:p.Gln408SerfsTer11
NM_020745.4:c.2512del (AARS2) MANE Select	NP_065796.2:p.Gln838SerfsTer11
NM_001318876.2:c.946-139741del (POLR1C)	NP_001305805.1:n.946-139741del