Canonical Allele Identifier: CA2740739755

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302560_44302561insGAGATGCTTATCCAGA , CM000668.2:g.44302560_44302561insGAGATGCTTATCCAGA	GRCh38
NC_000006.11:g.44270297_44270298insGAGATGCTTATCCAGA , CM000668.1:g.44270297_44270298insGAGATGCTTATCCAGA	GRCh37
NC_000006.10:g.44378275_44378276insGAGATGCTTATCCAGA	NCBI36
NG_031952.1:g.15766_15767insTCTGGATAAGCATCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2365-48_2365-47insTCTGGATAAGCATCTC (AARS2) MANE Select	ENSP00000244571.4:n.2365-48_2365-47insTCTGGATAAGCATCTC
ENST00000244571.4:c.2365-48_2365-47insTCTGGATAAGCATCTC (AARS2)	ENSP00000244571.4:n.2365-48_2365-47insTCTGGATAAGCATCTC
ENST00000438774.2:c.577-4383_577-4382insGAGATGCTTATCCAGA (TMEM151B)	ENSP00000409337.2:n.577-4383_577-4382insGAGATGCTTATCCAGA
ENST00000505802.1:c.314-4383_314-4382insGAGATGCTTATCCAGA
NM_020745.3:c.2365-48_2365-47insTCTGGATAAGCATCTC (AARS2)	NP_065796.1:n.2365-48_2365-47insTCTGGATAAGCATCTC
XM_005249245.2:c.2074-48_2074-47insTCTGGATAAGCATCTC (AARS2)	XP_005249302.1:n.2074-48_2074-47insTCTGGATAAGCATCTC
XM_011514764.1:c.2365-48_2365-47insTCTGGATAAGCATCTC (AARS2)	XP_011513066.1:n.2365-48_2365-47insTCTGGATAAGCATCTC
XR_241907.2:n.2290-48_2290-47insTCTGGATAAGCATCTC (AARS2)
XM_005249245.3:c.2074-48_2074-47insTCTGGATAAGCATCTC (AARS2)	XP_005249302.1:n.2074-48_2074-47insTCTGGATAAGCATCTC
XM_011514764.2:c.2365-48_2365-47insTCTGGATAAGCATCTC (AARS2)	XP_011513066.1:n.2365-48_2365-47insTCTGGATAAGCATCTC
XM_017011112.1:c.1075-48_1075-47insTCTGGATAAGCATCTC (AARS2)	XP_016866601.1:n.1075-48_1075-47insTCTGGATAAGCATCTC
NM_020745.4:c.2365-48_2365-47insTCTGGATAAGCATCTC (AARS2) MANE Select	NP_065796.2:n.2365-48_2365-47insTCTGGATAAGCATCTC
NM_001318876.2:c.946-139330_946-139329insGAGATGCTTATCCAGA (POLR1C)	NP_001305805.1:n.946-139330_946-139329insGAGATGCTTATCCAGA