Canonical Allele Identifier: CA2678953167

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44302656-A-AGCTATTGGCAGCTGGCATGTGTTTTGATTATTTGGTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302659_44302660insATTGGCAGCTGGCATGTGTTTTGATTATTTGGTGCTGCT , CM000668.2:g.44302659_44302660insATTGGCAGCTGGCATGTGTTTTGATTATTTGGTGCTGCT	GRCh38
NC_000006.11:g.44270396_44270397insATTGGCAGCTGGCATGTGTTTTGATTATTTGGTGCTGCT , CM000668.1:g.44270396_44270397insATTGGCAGCTGGCATGTGTTTTGATTATTTGGTGCTGCT	GRCh37
NC_000006.10:g.44378374_44378375insATTGGCAGCTGGCATGTGTTTTGATTATTTGGTGCTGCT	NCBI36
NG_031952.1:g.15670_15671insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2365-144_2365-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2) MANE Select	ENSP00000244571.4:n.2365-144_2365-143insAGCACCAAATAATCAAAACAC...
ENST00000244571.4:c.2365-144_2365-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2)	ENSP00000244571.4:n.2365-144_2365-143insAGCACCAAATAATCAAAACAC...
ENST00000438774.2:c.577-4284_577-4283insATTGGCAGCTGGCATGTGTTTTGATTATTTGGTGCTGCT (TMEM151B)	ENSP00000409337.2:n.577-4284_577-4283insATTGGCAGCTGGCATGTGTTT...
ENST00000505802.1:c.314-4284_314-4283insATTGGCAGCTGGCATGTGTTTTGATTATTTGGTGCTGCT
NM_020745.3:c.2365-144_2365-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2)	NP_065796.1:n.2365-144_2365-143insAGCACCAAATAATCAAAACACATGCCA...
XM_005249245.2:c.2074-144_2074-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2)	XP_005249302.1:n.2074-144_2074-143insAGCACCAAATAATCAAAACACATG...
XM_011514764.1:c.2365-144_2365-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2)	XP_011513066.1:n.2365-144_2365-143insAGCACCAAATAATCAAAACACATG...
XR_241907.2:n.2290-144_2290-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2)
XM_005249245.3:c.2074-144_2074-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2)	XP_005249302.1:n.2074-144_2074-143insAGCACCAAATAATCAAAACACATG...
XM_011514764.2:c.2365-144_2365-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2)	XP_011513066.1:n.2365-144_2365-143insAGCACCAAATAATCAAAACACATG...
XM_017011112.1:c.1075-144_1075-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2)	XP_016866601.1:n.1075-144_1075-143insAGCACCAAATAATCAAAACACATG...
NM_020745.4:c.2365-144_2365-143insAGCACCAAATAATCAAAACACATGCCAGCTGCCAATAGC (AARS2) MANE Select	NP_065796.2:n.2365-144_2365-143insAGCACCAAATAATCAAAACACATGCCA...
NM_001318876.2:c.946-139231_946-139230insATTGGCAGCTGGCATGTGTTTTGATTATTTGGTGCTGCT (POLR1C)	NP_001305805.1:n.946-139231_946-139230insATTGGCAGCTGGCATGTGTT...