Canonical Allele Identifier: CA2678953739

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44303366-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303368_44303369dup , CM000668.2:g.44303368_44303369dup	GRCh38
NC_000006.11:g.44271105_44271106dup , CM000668.1:g.44271105_44271106dup	GRCh37
NC_000006.10:g.44379083_44379084dup	NCBI36
NG_031952.1:g.14959_14960dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2063_2064dup (AARS2) MANE Select	ENSP00000244571.4:p.Gly689TrpfsTer?
ENST00000244571.4:c.2063_2064dup (AARS2)	ENSP00000244571.4:p.Gly689TrpfsTer?
ENST00000438774.2:c.577-3575_577-3574dup (TMEM151B)	ENSP00000409337.2:n.577-3575_577-3574dup
ENST00000505802.1:c.314-3575_314-3574dup
NM_020745.3:c.2063_2064dup (AARS2)	NP_065796.1:p.Gly689TrpfsTer?
XM_005249245.2:c.1772_1773dup (AARS2)	XP_005249302.1:p.Gly592TrpfsTer?
XM_011514764.1:c.2063_2064dup (AARS2)	XP_011513066.1:p.Gly689TrpfsTer?
XR_241907.2:n.2098_2099dup (AARS2)
XM_005249245.3:c.1772_1773dup (AARS2)	XP_005249302.1:p.Gly592TrpfsTer?
XM_011514764.2:c.2063_2064dup (AARS2)	XP_011513066.1:p.Gly689TrpfsTer?
XM_017011112.1:c.773_774dup (AARS2)	XP_016866601.1:p.Gly259TrpfsTer?
NM_020745.4:c.2063_2064dup (AARS2) MANE Select	NP_065796.2:p.Gly689TrpfsTer?
NM_001318876.2:c.946-138522_946-138521dup (POLR1C)	NP_001305805.1:n.946-138522_946-138521dup