Canonical Allele Identifier: CA289182

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 136216
• ClinVar RCV Id: RCV000123414 ; RCV000260230 ; RCV000972756
• dbSNP Id: rs35967387
• ExAC: 6:44270189 A / T
• gnomAD v2: 6-44270189-A-T
• gnomAD v3: 6-44302452-A-T
• gnomAD v4: 6-44302452-A-T
• MyVariant Identifiers: chr6:g.44270189A>T (hg19) ; chr6:g.44302452A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302452A>T , CM000668.2:g.44302452A>T	GRCh38
NC_000006.11:g.44270189A>T , CM000668.1:g.44270189A>T	GRCh37
NC_000006.10:g.44378167A>T	NCBI36
NG_031952.1:g.15875T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2426T>A (AARS2) MANE Select	ENSP00000244571.4:p.Leu809Gln
ENST00000244571.4:c.2426T>A (AARS2)	ENSP00000244571.4:p.Leu809Gln
ENST00000438774.2:c.577-4491A>T (TMEM151B)	ENSP00000409337.2:n.577-4491A>T
ENST00000505802.1:c.314-4491A>T
NM_020745.3:c.2426T>A (AARS2)	NP_065796.1:p.Leu809Gln
XM_005249245.2:c.2135T>A (AARS2)	XP_005249302.1:p.Leu712Gln
XM_011514764.1:c.2426T>A (AARS2)	XP_011513066.1:p.Leu809Gln
XR_241907.2:n.2351T>A (AARS2)
XM_005249245.3:c.2135T>A (AARS2)	XP_005249302.1:p.Leu712Gln
XM_011514764.2:c.2426T>A (AARS2)	XP_011513066.1:p.Leu809Gln
XM_017011112.1:c.1136T>A (AARS2)	XP_016866601.1:p.Leu379Gln
NM_020745.4:c.2426T>A (AARS2) MANE Select	NP_065796.2:p.Leu809Gln
NM_001318876.2:c.946-139438A>T (POLR1C)	NP_001305805.1:n.946-139438A>T