Canonical Allele Identifier: CA1624923052

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302322_44302323delinsAG , CM000668.2:g.44302322_44302323delinsAG	GRCh38
NC_000006.11:g.44270059_44270060delinsAG , CM000668.1:g.44270059_44270060delinsAG	GRCh37
NC_000006.10:g.44378037_44378038delinsAG	NCBI36
NG_031952.1:g.16004_16005delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2487+68_2487+69delinsCT (AARS2) MANE Select	ENSP00000244571.4:n.2487+68_2487+69delinsCT
ENST00000244571.4:c.2487+68_2487+69delinsCT (AARS2)	ENSP00000244571.4:n.2487+68_2487+69delinsCT
ENST00000438774.2:c.577-4621_577-4620delinsAG (TMEM151B)	ENSP00000409337.2:n.577-4621_577-4620delinsAG
ENST00000505802.1:c.314-4621_314-4620delinsAG
NM_020745.3:c.2487+68_2487+69delinsCT (AARS2)	NP_065796.1:n.2487+68_2487+69delinsCT
XM_005249245.2:c.2196+68_2196+69delinsCT (AARS2)	XP_005249302.1:n.2196+68_2196+69delinsCT
XM_011514764.1:c.2487+68_2487+69delinsCT (AARS2)	XP_011513066.1:n.2487+68_2487+69delinsCT
XR_241907.2:n.2412+68_2412+69delinsCT (AARS2)
XM_005249245.3:c.2196+68_2196+69delinsCT (AARS2)	XP_005249302.1:n.2196+68_2196+69delinsCT
XM_011514764.2:c.2487+68_2487+69delinsCT (AARS2)	XP_011513066.1:n.2487+68_2487+69delinsCT
XM_017011112.1:c.1197+68_1197+69delinsCT (AARS2)	XP_016866601.1:n.1197+68_1197+69delinsCT
NM_020745.4:c.2487+68_2487+69delinsCT (AARS2) MANE Select	NP_065796.2:n.2487+68_2487+69delinsCT
NM_001318876.2:c.946-139568_946-139567delinsAG (POLR1C)	NP_001305805.1:n.946-139568_946-139567delinsAG