Canonical Allele Identifier: CA1624923215

Gene: AARS2 TMEM151B POLR1C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302447_44302448delinsTC , CM000668.2:g.44302447_44302448delinsTC	GRCh38
NC_000006.11:g.44270184_44270185delinsTC , CM000668.1:g.44270184_44270185delinsTC	GRCh37
NC_000006.10:g.44378162_44378163delinsTC	NCBI36
NG_031952.1:g.15879_15880delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2430_2431delinsGA (AARS2) MANE Select	ENSP00000244571.4:p.Gly810=
ENST00000244571.4:c.2430_2431delinsGA (AARS2)	ENSP00000244571.4:p.Gly810=
ENST00000438774.2:c.577-4496_577-4495delinsTC (TMEM151B)	ENSP00000409337.2:n.577-4496_577-4495delinsTC
ENST00000505802.1:c.314-4496_314-4495delinsTC
NM_020745.3:c.2430_2431delinsGA (AARS2)	NP_065796.1:p.Gly810=
XM_005249245.2:c.2139_2140delinsGA (AARS2)	XP_005249302.1:p.Gly713=
XM_011514764.1:c.2430_2431delinsGA (AARS2)	XP_011513066.1:p.Gly810=
XR_241907.2:n.2355_2356delinsGA (AARS2)
XM_005249245.3:c.2139_2140delinsGA (AARS2)	XP_005249302.1:p.Gly713=
XM_011514764.2:c.2430_2431delinsGA (AARS2)	XP_011513066.1:p.Gly810=
XM_017011112.1:c.1140_1141delinsGA (AARS2)	XP_016866601.1:p.Gly380=
NM_020745.4:c.2430_2431delinsGA (AARS2) MANE Select	NP_065796.2:p.Gly810=
NM_001318876.2:c.946-139443_946-139442delinsTC (POLR1C)	NP_001305805.1:n.946-139443_946-139442delinsTC