Canonical Allele Identifier: CA2546571212

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313244_44313249del , CM000668.2:g.44313244_44313249del	GRCh38
NC_000006.11:g.44280981_44280986del , CM000668.1:g.44280981_44280986del	GRCh37
NC_000006.10:g.44388959_44388964del	NCBI36
NG_031952.1:g.5078_5083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.75_80del (AARS2) MANE Select	ENSP00000244571.4:p.Ser26_His27del
ENST00000244571.4:c.75_80del (AARS2)	ENSP00000244571.4:p.Ser26_His27del
ENST00000505802.1:c.855+5602_855+5607del
NM_020745.3:c.75_80del (AARS2)	NP_065796.1:p.Ser26_His27del
XM_005249245.2:c.75_80del (AARS2)	XP_005249302.1:p.Ser26_His27del
XM_011514764.1:c.75_80del (AARS2)	XP_011513066.1:p.Ser26_His27del
XR_241907.2:n.110_115del (AARS2)
XM_005249245.3:c.75_80del (AARS2)	XP_005249302.1:p.Ser26_His27del
XM_011514764.2:c.75_80del (AARS2)	XP_011513066.1:p.Ser26_His27del
NM_020745.4:c.75_80del (AARS2) MANE Select	NP_065796.2:p.Ser26_His27del
NM_001318876.2:c.946-128646_946-128641del (POLR1C)	NP_001305805.1:n.946-128646_946-128641del