Canonical Allele Identifier: CA2578633341

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311100_44311116del , CM000668.2:g.44311100_44311116del	GRCh38
NC_000006.11:g.44278837_44278853del , CM000668.1:g.44278837_44278853del	GRCh37
NC_000006.10:g.44386815_44386831del	NCBI36
NG_031952.1:g.7215_7231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.631_647del (AARS2) MANE Select	ENSP00000244571.4:p.Glu211ProfsTer7
ENST00000244571.4:c.631_647del (AARS2)	ENSP00000244571.4:p.Glu211ProfsTer7
ENST00000505802.1:c.855+3458_855+3474del
NM_020745.3:c.631_647del (AARS2)	NP_065796.1:p.Glu211ProfsTer7
XM_005249245.2:c.631_647del (AARS2)	XP_005249302.1:p.Glu211ProfsTer7
XM_011514764.1:c.631_647del (AARS2)	XP_011513066.1:p.Glu211ProfsTer7
XR_241907.2:n.666_682del (AARS2)
XM_005249245.3:c.631_647del (AARS2)	XP_005249302.1:p.Glu211ProfsTer7
XM_011514764.2:c.631_647del (AARS2)	XP_011513066.1:p.Glu211ProfsTer7
XM_017011112.1:c.-388_-372del (AARS2)	XP_016866601.1:n.-388_-372del
NM_020745.4:c.631_647del (AARS2) MANE Select	NP_065796.2:p.Glu211ProfsTer7
NM_001318876.2:c.946-130790_946-130774del (POLR1C)	NP_001305805.1:n.946-130790_946-130774del