Canonical Allele Identifier: CA3834623

Gene: AARS2 POLR1C

Linked Data

• ClinVar Variation Id: 1913436
• ClinVar RCV Id: RCV002608331
• dbSNP Id: rs774019562
• ExAC: 6:44279222 G / T
• gnomAD v2: 6-44279222-G-T
• gnomAD v3: 6-44311485-G-T
• gnomAD v4: 6-44311485-G-T
• MyVariant Identifiers: chr6:g.44279222G>T (hg19) ; chr6:g.44311485G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311485G>T , CM000668.2:g.44311485G>T	GRCh38
NC_000006.11:g.44279222G>T , CM000668.1:g.44279222G>T	GRCh37
NC_000006.10:g.44387200G>T	NCBI36
NG_031952.1:g.6842C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.486C>A (AARS2) MANE Select	ENSP00000244571.4:p.Ile162=
ENST00000244571.4:c.486C>A (AARS2)	ENSP00000244571.4:p.Ile162=
ENST00000505802.1:c.855+3843G>T
NM_020745.3:c.486C>A (AARS2)	NP_065796.1:p.Ile162=
XM_005249245.2:c.486C>A (AARS2)	XP_005249302.1:p.Ile162=
XM_011514764.1:c.486C>A (AARS2)	XP_011513066.1:p.Ile162=
XR_241907.2:n.521C>A (AARS2)
XM_005249245.3:c.486C>A (AARS2)	XP_005249302.1:p.Ile162=
XM_011514764.2:c.486C>A (AARS2)	XP_011513066.1:p.Ile162=
XM_017011112.1:c.-533C>A (AARS2)	XP_016866601.1:n.-533C>A
NM_020745.4:c.486C>A (AARS2) MANE Select	NP_065796.2:p.Ile162=
NM_001318876.2:c.946-130405G>T (POLR1C)	NP_001305805.1:n.946-130405G>T