Canonical Allele Identifier: CA2578633340

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44305081_44305083del , CM000668.2:g.44305081_44305083del	GRCh38
NC_000006.11:g.44272818_44272820del , CM000668.1:g.44272818_44272820del	GRCh37
NC_000006.10:g.44380796_44380798del	NCBI36
NG_031952.1:g.13247_13249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.1553_1555del (AARS2) MANE Select	ENSP00000244571.4:p.Tyr518del
ENST00000244571.4:c.1553_1555del (AARS2)	ENSP00000244571.4:p.Tyr518del
ENST00000438774.2:c.577-1862_577-1860del (TMEM151B)	ENSP00000409337.2:n.577-1862_577-1860del
ENST00000505802.1:c.314-1862_314-1860del
NM_020745.3:c.1553_1555del (AARS2)	NP_065796.1:p.Tyr518del
XM_005249245.2:c.1262_1264del (AARS2)	XP_005249302.1:p.Tyr421del
XM_011514764.1:c.1553_1555del (AARS2)	XP_011513066.1:p.Tyr518del
XR_241907.2:n.1588_1590del (AARS2)
XM_005249245.3:c.1262_1264del (AARS2)	XP_005249302.1:p.Tyr421del
XM_011514764.2:c.1553_1555del (AARS2)	XP_011513066.1:p.Tyr518del
XM_017011112.1:c.263_265del (AARS2)	XP_016866601.1:p.Tyr88del
NM_020745.4:c.1553_1555del (AARS2) MANE Select	NP_065796.2:p.Tyr518del
NM_001318876.2:c.946-136809_946-136807del (POLR1C)	NP_001305805.1:n.946-136809_946-136807del