Canonical Allele Identifier: CA3834597

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs769396726
• ExAC: 6:44278916 TGA / T
• gnomAD v2: 6-44278916-TGA-T
• gnomAD v4: 6-44311179-TGA-T
• MyVariant Identifiers: chr6:g.44278917_44278918del (hg19) ; chr6:g.44311180_44311181del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311181_44311182del , CM000668.2:g.44311181_44311182del	GRCh38
NC_000006.11:g.44278918_44278919del , CM000668.1:g.44278918_44278919del	GRCh37
NC_000006.10:g.44386896_44386897del	NCBI36
NG_031952.1:g.7146_7147del

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.582-20_582-19del (AARS2) MANE Select	ENSP00000244571.4:n.582-20_582-19del
ENST00000244571.4:c.582-20_582-19del (AARS2)	ENSP00000244571.4:n.582-20_582-19del
ENST00000505802.1:c.855+3539_855+3540del
NM_020745.3:c.582-20_582-19del (AARS2)	NP_065796.1:n.582-20_582-19del
XM_005249245.2:c.582-20_582-19del (AARS2)	XP_005249302.1:n.582-20_582-19del
XM_011514764.1:c.582-20_582-19del (AARS2)	XP_011513066.1:n.582-20_582-19del
XR_241907.2:n.617-20_617-19del (AARS2)
XM_005249245.3:c.582-20_582-19del (AARS2)	XP_005249302.1:n.582-20_582-19del
XM_011514764.2:c.582-20_582-19del (AARS2)	XP_011513066.1:n.582-20_582-19del
XM_017011112.1:c.-437-20_-437-19del (AARS2)	XP_016866601.1:n.-437-20_-437-19del
NM_020745.4:c.582-20_582-19del (AARS2) MANE Select	NP_065796.2:n.582-20_582-19del
NM_001318876.2:c.946-130709_946-130708del (POLR1C)	NP_001305805.1:n.946-130709_946-130708del