Canonical Allele Identifier: CA1624922931

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302180_44302181delinsGA , CM000668.2:g.44302180_44302181delinsGA	GRCh38
NC_000006.11:g.44269917_44269918delinsGA , CM000668.1:g.44269917_44269918delinsGA	GRCh37
NC_000006.10:g.44377895_44377896delinsGA	NCBI36
NG_031952.1:g.16146_16147delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2488-11_2488-10delinsTC (AARS2) MANE Select	ENSP00000244571.4:n.2488-11_2488-10delinsTC
ENST00000244571.4:c.2488-11_2488-10delinsTC (AARS2)	ENSP00000244571.4:n.2488-11_2488-10delinsTC
ENST00000438774.2:c.577-4763_577-4762delinsGA (TMEM151B)	ENSP00000409337.2:n.577-4763_577-4762delinsGA
ENST00000505802.1:c.314-4763_314-4762delinsGA
NM_020745.3:c.2488-11_2488-10delinsTC (AARS2)	NP_065796.1:n.2488-11_2488-10delinsTC
XM_005249245.2:c.2197-11_2197-10delinsTC (AARS2)	XP_005249302.1:n.2197-11_2197-10delinsTC
XM_011514764.1:c.2488-11_2488-10delinsTC (AARS2)	XP_011513066.1:n.2488-11_2488-10delinsTC
XR_241907.2:n.2413-11_2413-10delinsTC (AARS2)
XM_005249245.3:c.2197-11_2197-10delinsTC (AARS2)	XP_005249302.1:n.2197-11_2197-10delinsTC
XM_011514764.2:c.2488-11_2488-10delinsTC (AARS2)	XP_011513066.1:n.2488-11_2488-10delinsTC
XM_017011112.1:c.1198-11_1198-10delinsTC (AARS2)	XP_016866601.1:n.1198-11_1198-10delinsTC
NM_020745.4:c.2488-11_2488-10delinsTC (AARS2) MANE Select	NP_065796.2:n.2488-11_2488-10delinsTC
NM_001318876.2:c.946-139710_946-139709delinsGA (POLR1C)	NP_001305805.1:n.946-139710_946-139709delinsGA