Canonical Allele Identifier: CA3834072

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 281937
• ClinVar RCV Id: RCV000330157 ; RCV001163260
• dbSNP Id: rs566667883
• ExAC: 6:44270893 C / T
• gnomAD v2: 6-44270893-C-T
• gnomAD v3: 6-44303156-C-T
• gnomAD v4: 6-44303156-C-T
• COSMIC: COSM5767580
• MyVariant Identifiers: chr6:g.44270893C>T (hg19) ; chr6:g.44303156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303156C>T , CM000668.2:g.44303156C>T	GRCh38
NC_000006.11:g.44270893C>T , CM000668.1:g.44270893C>T	GRCh37
NC_000006.10:g.44378871C>T	NCBI36
NG_031952.1:g.15171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2165G>A (AARS2) MANE Select	ENSP00000244571.4:p.Arg722Gln
ENST00000244571.4:c.2165G>A (AARS2)	ENSP00000244571.4:p.Arg722Gln
ENST00000438774.2:c.577-3787C>T (TMEM151B)	ENSP00000409337.2:n.577-3787C>T
ENST00000505802.1:c.314-3787C>T
NM_020745.3:c.2165G>A (AARS2)	NP_065796.1:p.Arg722Gln
XM_005249245.2:c.1874G>A (AARS2)	XP_005249302.1:p.Arg625Gln
XM_011514764.1:c.2165G>A (AARS2)	XP_011513066.1:p.Arg722Gln
XR_241907.2:n.2180+130G>A (AARS2)
XM_005249245.3:c.1874G>A (AARS2)	XP_005249302.1:p.Arg625Gln
XM_011514764.2:c.2165G>A (AARS2)	XP_011513066.1:p.Arg722Gln
XM_017011112.1:c.875G>A (AARS2)	XP_016866601.1:p.Arg292Gln
NM_020745.4:c.2165G>A (AARS2) MANE Select	NP_065796.2:p.Arg722Gln
NM_001318876.2:c.946-138734C>T (POLR1C)	NP_001305805.1:n.946-138734C>T