Canonical Allele Identifier: CA2678954471

Gene: AARS2 TMEM151B POLR1C

Linked Data

• gnomAD v4: 6-44305074-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44305077del , CM000668.2:g.44305077del	GRCh38
NC_000006.11:g.44272814del , CM000668.1:g.44272814del	GRCh37
NC_000006.10:g.44380792del	NCBI36
NG_031952.1:g.13252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.1558del (AARS2) MANE Select	ENSP00000244571.4:p.Leu520CysfsTer?
ENST00000244571.4:c.1558del (AARS2)	ENSP00000244571.4:p.Leu520CysfsTer?
ENST00000438774.2:c.577-1866del (TMEM151B)	ENSP00000409337.2:n.577-1866del
ENST00000505802.1:c.314-1866del
NM_020745.3:c.1558del (AARS2)	NP_065796.1:p.Leu520CysfsTer?
XM_005249245.2:c.1267del (AARS2)	XP_005249302.1:p.Leu423CysfsTer?
XM_011514764.1:c.1558del (AARS2)	XP_011513066.1:p.Leu520CysfsTer?
XR_241907.2:n.1593del (AARS2)
XM_005249245.3:c.1267del (AARS2)	XP_005249302.1:p.Leu423CysfsTer?
XM_011514764.2:c.1558del (AARS2)	XP_011513066.1:p.Leu520CysfsTer?
XM_017011112.1:c.268del (AARS2)	XP_016866601.1:p.Leu90CysfsTer?
NM_020745.4:c.1558del (AARS2) MANE Select	NP_065796.2:p.Leu520CysfsTer?
NM_001318876.2:c.946-136813del (POLR1C)	NP_001305805.1:n.946-136813del