Canonical Allele Identifier: CA3834589

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs745314479
• ExAC: 6:44278870 CA / C
• gnomAD v2: 6-44278870-CA-C
• gnomAD v4: 6-44311133-CA-C
• MyVariant Identifiers: chr6:g.44278871del (hg19) ; chr6:g.44311134del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311136del , CM000668.2:g.44311136del	GRCh38
NC_000006.11:g.44278873del , CM000668.1:g.44278873del	GRCh37
NC_000006.10:g.44386851del	NCBI36
NG_031952.1:g.7193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.609del (AARS2) MANE Select	ENSP00000244571.4:p.Phe203LeufsTer?
ENST00000244571.4:c.609del (AARS2)	ENSP00000244571.4:p.Phe203LeufsTer?
ENST00000505802.1:c.855+3494del
NM_020745.3:c.609del (AARS2)	NP_065796.1:p.Phe203LeufsTer?
XM_005249245.2:c.609del (AARS2)	XP_005249302.1:p.Phe203LeufsTer?
XM_011514764.1:c.609del (AARS2)	XP_011513066.1:p.Phe203LeufsTer?
XR_241907.2:n.644del (AARS2)
XM_005249245.3:c.609del (AARS2)	XP_005249302.1:p.Phe203LeufsTer?
XM_011514764.2:c.609del (AARS2)	XP_011513066.1:p.Phe203LeufsTer?
XM_017011112.1:c.-410del (AARS2)	XP_016866601.1:n.-410del
NM_020745.4:c.609del (AARS2) MANE Select	NP_065796.2:p.Phe203LeufsTer?
NM_001318876.2:c.946-130754del (POLR1C)	NP_001305805.1:n.946-130754del