Canonical Allele Identifier: CA1624928915

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1786316110
• gnomAD v4: 6-44311157-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311158del , CM000668.2:g.44311158del	GRCh38
NC_000006.11:g.44278895del , CM000668.1:g.44278895del	GRCh37
NC_000006.10:g.44386873del	NCBI36
NG_031952.1:g.7169del

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.585del (AARS2) MANE Select	ENSP00000244571.4:p.Pro196LeufsTer?
ENST00000244571.4:c.585del (AARS2)	ENSP00000244571.4:p.Pro196LeufsTer?
ENST00000505802.1:c.855+3516del
NM_020745.3:c.585del (AARS2)	NP_065796.1:p.Pro196LeufsTer?
XM_005249245.2:c.585del (AARS2)	XP_005249302.1:p.Pro196LeufsTer?
XM_011514764.1:c.585del (AARS2)	XP_011513066.1:p.Pro196LeufsTer?
XR_241907.2:n.620del (AARS2)
XM_005249245.3:c.585del (AARS2)	XP_005249302.1:p.Pro196LeufsTer?
XM_011514764.2:c.585del (AARS2)	XP_011513066.1:p.Pro196LeufsTer?
XM_017011112.1:c.-434del (AARS2)	XP_016866601.1:n.-434del
NM_020745.4:c.585del (AARS2) MANE Select	NP_065796.2:p.Pro196LeufsTer?
NM_001318876.2:c.946-130732del (POLR1C)	NP_001305805.1:n.946-130732del