Canonical Allele Identifier: CA2770869187

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302567_44302568insACCCCACCAAACA , CM000668.2:g.44302567_44302568insACCCCACCAAACA	GRCh38
NC_000006.11:g.44270304_44270305insACCCCACCAAACA , CM000668.1:g.44270304_44270305insACCCCACCAAACA	GRCh37
NC_000006.10:g.44378282_44378283insACCCCACCAAACA	NCBI36
NG_031952.1:g.15759_15760insTGTTTGGTGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2365-55_2365-54insTGTTTGGTGGGGT (AARS2) MANE Select	ENSP00000244571.4:n.2365-55_2365-54insTGTTTGGTGGGGT
ENST00000244571.4:c.2365-55_2365-54insTGTTTGGTGGGGT (AARS2)	ENSP00000244571.4:n.2365-55_2365-54insTGTTTGGTGGGGT
ENST00000438774.2:c.577-4376_577-4375insACCCCACCAAACA (TMEM151B)	ENSP00000409337.2:n.577-4376_577-4375insACCCCACCAAACA
ENST00000505802.1:c.314-4376_314-4375insACCCCACCAAACA
NM_020745.3:c.2365-55_2365-54insTGTTTGGTGGGGT (AARS2)	NP_065796.1:n.2365-55_2365-54insTGTTTGGTGGGGT
XM_005249245.2:c.2074-55_2074-54insTGTTTGGTGGGGT (AARS2)	XP_005249302.1:n.2074-55_2074-54insTGTTTGGTGGGGT
XM_011514764.1:c.2365-55_2365-54insTGTTTGGTGGGGT (AARS2)	XP_011513066.1:n.2365-55_2365-54insTGTTTGGTGGGGT
XR_241907.2:n.2290-55_2290-54insTGTTTGGTGGGGT (AARS2)
XM_005249245.3:c.2074-55_2074-54insTGTTTGGTGGGGT (AARS2)	XP_005249302.1:n.2074-55_2074-54insTGTTTGGTGGGGT
XM_011514764.2:c.2365-55_2365-54insTGTTTGGTGGGGT (AARS2)	XP_011513066.1:n.2365-55_2365-54insTGTTTGGTGGGGT
XM_017011112.1:c.1075-55_1075-54insTGTTTGGTGGGGT (AARS2)	XP_016866601.1:n.1075-55_1075-54insTGTTTGGTGGGGT
NM_020745.4:c.2365-55_2365-54insTGTTTGGTGGGGT (AARS2) MANE Select	NP_065796.2:n.2365-55_2365-54insTGTTTGGTGGGGT
NM_001318876.2:c.946-139323_946-139322insACCCCACCAAACA (POLR1C)	NP_001305805.1:n.946-139323_946-139322insACCCCACCAAACA