Canonical Allele Identifier: CA2840279631

Gene: AARS2 POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311236dup , CM000668.2:g.44311236dup	GRCh38
NC_000006.11:g.44278973dup , CM000668.1:g.44278973dup	GRCh37
NC_000006.10:g.44386951dup	NCBI36
NG_031952.1:g.7094dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.582-72dup (AARS2) MANE Select	ENSP00000244571.4:n.582-72dup
ENST00000244571.4:c.582-72dup (AARS2)	ENSP00000244571.4:n.582-72dup
ENST00000505802.1:c.855+3594dup
NM_020745.3:c.582-72dup (AARS2)	NP_065796.1:n.582-72dup
XM_005249245.2:c.582-72dup (AARS2)	XP_005249302.1:n.582-72dup
XM_011514764.1:c.582-72dup (AARS2)	XP_011513066.1:n.582-72dup
XR_241907.2:n.617-72dup (AARS2)
XM_005249245.3:c.582-72dup (AARS2)	XP_005249302.1:n.582-72dup
XM_011514764.2:c.582-72dup (AARS2)	XP_011513066.1:n.582-72dup
XM_017011112.1:c.-437-72dup (AARS2)	XP_016866601.1:n.-437-72dup
NM_020745.4:c.582-72dup (AARS2) MANE Select	NP_065796.2:n.582-72dup
NM_001318876.2:c.946-130654dup (POLR1C)	NP_001305805.1:n.946-130654dup