Canonical Allele Identifier: CA3834599

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs749293909
• ExAC: 6:44278926 GAGAC / G
• gnomAD v2: 6-44278926-GAGAC-G
• gnomAD v3: 6-44311189-GAGAC-G
• gnomAD v4: 6-44311189-GAGAC-G
• MyVariant Identifiers: chr6:g.44278927_44278930del (hg19) ; chr6:g.44311190_44311193del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311198_44311201del , CM000668.2:g.44311198_44311201del	GRCh38
NC_000006.11:g.44278935_44278938del , CM000668.1:g.44278935_44278938del	GRCh37
NC_000006.10:g.44386913_44386916del	NCBI36
NG_031952.1:g.7134_7137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.582-32_582-29del (AARS2) MANE Select	ENSP00000244571.4:n.582-32_582-29del
ENST00000244571.4:c.582-32_582-29del (AARS2)	ENSP00000244571.4:n.582-32_582-29del
ENST00000505802.1:c.855+3556_855+3559del
NM_020745.3:c.582-32_582-29del (AARS2)	NP_065796.1:n.582-32_582-29del
XM_005249245.2:c.582-32_582-29del (AARS2)	XP_005249302.1:n.582-32_582-29del
XM_011514764.1:c.582-32_582-29del (AARS2)	XP_011513066.1:n.582-32_582-29del
XR_241907.2:n.617-32_617-29del (AARS2)
XM_005249245.3:c.582-32_582-29del (AARS2)	XP_005249302.1:n.582-32_582-29del
XM_011514764.2:c.582-32_582-29del (AARS2)	XP_011513066.1:n.582-32_582-29del
XM_017011112.1:c.-437-32_-437-29del (AARS2)	XP_016866601.1:n.-437-32_-437-29del
NM_020745.4:c.582-32_582-29del (AARS2) MANE Select	NP_065796.2:n.582-32_582-29del
NM_001318876.2:c.946-130692_946-130689del (POLR1C)	NP_001305805.1:n.946-130692_946-130689del