Canonical Allele Identifier: CA2986532038

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44301319dup , CM000668.2:g.44301319dup	GRCh38
NC_000006.11:g.44269056dup , CM000668.1:g.44269056dup	GRCh37
NC_000006.10:g.44377034dup	NCBI36
NG_031952.1:g.17008dup

Transcript Alleles

HGVS	Amino-acid Change
NM_020745.4:c.2683-53dup (AARS2) MANE Select	NP_065796.2:n.2683-53dup
ENST00000244571.5:c.2683-53dup (AARS2) MANE Select	ENSP00000244571.4:n.2683-53dup
NM_001318876.2:c.946-140571dup (POLR1C)	NP_001305805.1:n.946-140571dup
NM_020745.3:c.2683-53dup (AARS2)	NP_065796.1:n.2683-53dup
ENST00000244571.4:c.2683-53dup (AARS2)	ENSP00000244571.4:n.2683-53dup
ENST00000438774.2:c.577-5624dup (TMEM151B)	ENSP00000409337.2:n.577-5624dup
ENST00000491573.1:n.41-53dup (AARS2)
ENST00000505802.1:c.314-5624dup
XM_005249245.2:c.2392-53dup (AARS2)	XP_005249302.1:n.2392-53dup
XM_005249245.3:c.2392-53dup (AARS2)	XP_005249302.1:n.2392-53dup
XM_011514764.1:c.2683-53dup (AARS2)	XP_011513066.1:n.2683-53dup
XM_011514764.2:c.2683-53dup (AARS2)	XP_011513066.1:n.2683-53dup
XM_017011112.1:c.1393-53dup (AARS2)	XP_016866601.1:n.1393-53dup
XR_241907.2:n.2608-53dup (AARS2)