Canonical Allele Identifier: CA567154593

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1253616133
• gnomAD v2: 6-44278773-TG-T
• gnomAD v3: 6-44311036-TG-T
• gnomAD v4: 6-44311036-TG-T
• COSMIC: COSM5061829
• MyVariant Identifiers: chr6:g.44278774del (hg19) ; chr6:g.44311037del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311042del , CM000668.2:g.44311042del	GRCh38
NC_000006.11:g.44278779del , CM000668.1:g.44278779del	GRCh37
NC_000006.10:g.44386757del	NCBI36
NG_031952.1:g.7290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.706del (AARS2) MANE Select	ENSP00000244571.4:p.Gln236SerfsTer3
ENST00000244571.4:c.706del (AARS2)	ENSP00000244571.4:p.Gln236SerfsTer3
ENST00000505802.1:c.855+3400del
NM_020745.3:c.706del (AARS2)	NP_065796.1:p.Gln236SerfsTer3
XM_005249245.2:c.706del (AARS2)	XP_005249302.1:p.Gln236SerfsTer3
XM_011514764.1:c.706del (AARS2)	XP_011513066.1:p.Gln236SerfsTer3
XR_241907.2:n.741del (AARS2)
XM_005249245.3:c.706del (AARS2)	XP_005249302.1:p.Gln236SerfsTer3
XM_011514764.2:c.706del (AARS2)	XP_011513066.1:p.Gln236SerfsTer3
XM_017011112.1:c.-313del (AARS2)	XP_016866601.1:n.-313del
NM_020745.4:c.706del (AARS2) MANE Select	NP_065796.2:p.Gln236SerfsTer3
NM_001318876.2:c.946-130848del (POLR1C)	NP_001305805.1:n.946-130848del