Canonical Allele Identifier: CA1624921826

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300649_44300652delinsGCCC , CM000668.2:g.44300649_44300652delinsGCCC	GRCh38
NC_000006.11:g.44268386_44268389delinsGCCC , CM000668.1:g.44268386_44268389delinsGCCC	GRCh37
NC_000006.10:g.44376364_44376367delinsGCCC	NCBI36
NG_031952.1:g.17675_17678delinsGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2853_2856delinsGGGC (AARS2) MANE Select	ENSP00000244571.4:p.Gly951=
ENST00000244571.4:c.2853_2856delinsGGGC (AARS2)	ENSP00000244571.4:p.Gly951=
ENST00000438774.2:c.577-6294_577-6291delinsGCCC (TMEM151B)	ENSP00000409337.2:n.577-6294_577-6291delinsGCCC
ENST00000491573.1:n.655_658delinsGGGC (AARS2)
ENST00000505802.1:c.314-6294_314-6291delinsGCCC
NM_020745.3:c.2853_2856delinsGGGC (AARS2)	NP_065796.1:p.Gly951=
XM_005249245.2:c.2562_2565delinsGGGC (AARS2)	XP_005249302.1:p.Gly854=
XM_011514764.1:c.2793+504_2793+507delinsGGGC (AARS2)	XP_011513066.1:n.2793+504_2793+507delinsGGGC
XR_241907.2:n.2778_2781delinsGGGC (AARS2)
XM_005249245.3:c.2562_2565delinsGGGC (AARS2)	XP_005249302.1:p.Gly854=
XM_011514764.2:c.2793+504_2793+507delinsGGGC (AARS2)	XP_011513066.1:n.2793+504_2793+507delinsGGGC
XM_017011112.1:c.1563_1566delinsGGGC (AARS2)	XP_016866601.1:p.Gly521=
NM_020745.4:c.2853_2856delinsGGGC (AARS2) MANE Select	NP_065796.2:p.Gly951=
NM_001318876.2:c.946-141241_946-141238delinsGCCC (POLR1C)	NP_001305805.1:n.946-141241_946-141238delinsGCCC