Canonical Allele Identifier: CA567154592

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1377085304
• gnomAD v2: 6-44278766-TACCAGCTGGGGGGCTCCCACCCC-T
• gnomAD v4: 6-44311029-TACCAGCTGGGGGGCTCCCACCCC-T
• MyVariant Identifiers: chr6:g.44278767_44278789del (hg19) ; chr6:g.44311030_44311052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311036_44311058del , CM000668.2:g.44311036_44311058del	GRCh38
NC_000006.11:g.44278773_44278795del , CM000668.1:g.44278773_44278795del	GRCh37
NC_000006.10:g.44386751_44386773del	NCBI36
NG_031952.1:g.7275_7297del

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.691_713del (AARS2) MANE Select	ENSP00000244571.4:p.Gly231ArgfsTer?
ENST00000244571.4:c.691_713del (AARS2)	ENSP00000244571.4:p.Gly231ArgfsTer?
ENST00000505802.1:c.855+3394_855+3416del
NM_020745.3:c.691_713del (AARS2)	NP_065796.1:p.Gly231ArgfsTer?
XM_005249245.2:c.691_713del (AARS2)	XP_005249302.1:p.Gly231ArgfsTer?
XM_011514764.1:c.691_713del (AARS2)	XP_011513066.1:p.Gly231ArgfsTer?
XR_241907.2:n.726_748del (AARS2)
XM_005249245.3:c.691_713del (AARS2)	XP_005249302.1:p.Gly231ArgfsTer?
XM_011514764.2:c.691_713del (AARS2)	XP_011513066.1:p.Gly231ArgfsTer?
XM_017011112.1:c.-328_-306del (AARS2)	XP_016866601.1:n.-328_-306del
NM_020745.4:c.691_713del (AARS2) MANE Select	NP_065796.2:p.Gly231ArgfsTer?
NM_001318876.2:c.946-130854_946-130832del (POLR1C)	NP_001305805.1:n.946-130854_946-130832del