Canonical Allele Identifier: CA2678953096

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44302466-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302467del , CM000668.2:g.44302467del	GRCh38
NC_000006.11:g.44270204del , CM000668.1:g.44270204del	GRCh37
NC_000006.10:g.44378182del	NCBI36
NG_031952.1:g.15860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2411del (AARS2) MANE Select	ENSP00000244571.4:p.Thr804MetfsTer4
ENST00000244571.4:c.2411del (AARS2)	ENSP00000244571.4:p.Thr804MetfsTer4
ENST00000438774.2:c.577-4476del (TMEM151B)	ENSP00000409337.2:n.577-4476del
ENST00000505802.1:c.314-4476del
NM_020745.3:c.2411del (AARS2)	NP_065796.1:p.Thr804MetfsTer4
XM_005249245.2:c.2120del (AARS2)	XP_005249302.1:p.Thr707MetfsTer4
XM_011514764.1:c.2411del (AARS2)	XP_011513066.1:p.Thr804MetfsTer4
XR_241907.2:n.2336del (AARS2)
XM_005249245.3:c.2120del (AARS2)	XP_005249302.1:p.Thr707MetfsTer4
XM_011514764.2:c.2411del (AARS2)	XP_011513066.1:p.Thr804MetfsTer4
XM_017011112.1:c.1121del (AARS2)	XP_016866601.1:p.Thr374MetfsTer4
NM_020745.4:c.2411del (AARS2) MANE Select	NP_065796.2:p.Thr804MetfsTer4
NM_001318876.2:c.946-139423del (POLR1C)	NP_001305805.1:n.946-139423del