Canonical Allele Identifier: CA2578633252

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302337_44302347del , CM000668.2:g.44302337_44302347del	GRCh38
NC_000006.11:g.44270074_44270084del , CM000668.1:g.44270074_44270084del	GRCh37
NC_000006.10:g.44378052_44378062del	NCBI36
NG_031952.1:g.15986_15996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2487+50_2487+60del (AARS2) MANE Select	ENSP00000244571.4:n.2487+50_2487+60del
ENST00000244571.4:c.2487+50_2487+60del (AARS2)	ENSP00000244571.4:n.2487+50_2487+60del
ENST00000438774.2:c.577-4606_577-4596del (TMEM151B)	ENSP00000409337.2:n.577-4606_577-4596del
ENST00000505802.1:c.314-4606_314-4596del
NM_020745.3:c.2487+50_2487+60del (AARS2)	NP_065796.1:n.2487+50_2487+60del
XM_005249245.2:c.2196+50_2196+60del (AARS2)	XP_005249302.1:n.2196+50_2196+60del
XM_011514764.1:c.2487+50_2487+60del (AARS2)	XP_011513066.1:n.2487+50_2487+60del
XR_241907.2:n.2412+50_2412+60del (AARS2)
XM_005249245.3:c.2196+50_2196+60del (AARS2)	XP_005249302.1:n.2196+50_2196+60del
XM_011514764.2:c.2487+50_2487+60del (AARS2)	XP_011513066.1:n.2487+50_2487+60del
XM_017011112.1:c.1197+50_1197+60del (AARS2)	XP_016866601.1:n.1197+50_1197+60del
NM_020745.4:c.2487+50_2487+60del (AARS2) MANE Select	NP_065796.2:n.2487+50_2487+60del
NM_001318876.2:c.946-139553_946-139543del (POLR1C)	NP_001305805.1:n.946-139553_946-139543del