Canonical Allele Identifier: CA3834761

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs755578570
• ExAC: 6:44281040 AGCTGCCACTGAC / A
• gnomAD v2: 6-44281040-AGCTGCCACTGAC-A
• gnomAD v4: 6-44313303-AGCTGCCACTGAC-A
• MyVariant Identifiers: chr6:g.44281041_44281052del (hg19) ; chr6:g.44313304_44313315del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313311_44313322del , CM000668.2:g.44313311_44313322del	GRCh38
NC_000006.11:g.44281048_44281059del , CM000668.1:g.44281048_44281059del	GRCh37
NC_000006.10:g.44389026_44389037del	NCBI36
NG_031952.1:g.5012_5023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.9_20del (AARS2) MANE Select	ENSP00000244571.4:p.Ser4_Ala7del
ENST00000244571.4:c.9_20del (AARS2)	ENSP00000244571.4:p.Ser4_Ala7del
ENST00000505802.1:c.855+5669_855+5680del
NM_020745.3:c.9_20del (AARS2)	NP_065796.1:p.Ser4_Ala7del
XM_005249245.2:c.9_20del (AARS2)	XP_005249302.1:p.Ser4_Ala7del
XM_011514764.1:c.9_20del (AARS2)	XP_011513066.1:p.Ser4_Ala7del
XR_241907.2:n.44_55del (AARS2)
XM_005249245.3:c.9_20del (AARS2)	XP_005249302.1:p.Ser4_Ala7del
XM_011514764.2:c.9_20del (AARS2)	XP_011513066.1:p.Ser4_Ala7del
NM_020745.4:c.9_20del (AARS2) MANE Select	NP_065796.2:p.Ser4_Ala7del
NM_001318876.2:c.946-128579_946-128568del (POLR1C)	NP_001305805.1:n.946-128579_946-128568del