Canonical Allele Identifier: CA2678953030

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44302097-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302098del , CM000668.2:g.44302098del	GRCh38
NC_000006.11:g.44269835del , CM000668.1:g.44269835del	GRCh37
NC_000006.10:g.44377813del	NCBI36
NG_031952.1:g.16229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2560del (AARS2) MANE Select	ENSP00000244571.4:p.Arg854ValfsTer30
ENST00000244571.4:c.2560del (AARS2)	ENSP00000244571.4:p.Arg854ValfsTer30
ENST00000438774.2:c.577-4845del (TMEM151B)	ENSP00000409337.2:n.577-4845del
ENST00000505802.1:c.314-4845del
NM_020745.3:c.2560del (AARS2)	NP_065796.1:p.Arg854ValfsTer30
XM_005249245.2:c.2269del (AARS2)	XP_005249302.1:p.Arg757ValfsTer30
XM_011514764.1:c.2560del (AARS2)	XP_011513066.1:p.Arg854ValfsTer30
XR_241907.2:n.2485del (AARS2)
XM_005249245.3:c.2269del (AARS2)	XP_005249302.1:p.Arg757ValfsTer30
XM_011514764.2:c.2560del (AARS2)	XP_011513066.1:p.Arg854ValfsTer30
XM_017011112.1:c.1270del (AARS2)	XP_016866601.1:p.Arg424ValfsTer30
NM_020745.4:c.2560del (AARS2) MANE Select	NP_065796.2:p.Arg854ValfsTer30
NM_001318876.2:c.946-139792del (POLR1C)	NP_001305805.1:n.946-139792del