Canonical Allele Identifier: CA364340819

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1786303386
• MyVariant Identifiers: chr6:g.44278762G>T (hg19) ; chr6:g.44311025G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311025G>T , CM000668.2:g.44311025G>T	GRCh38
NC_000006.11:g.44278762G>T , CM000668.1:g.44278762G>T	GRCh37
NC_000006.10:g.44386740G>T	NCBI36
NG_031952.1:g.7302C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.718C>A (AARS2) MANE Select	ENSP00000244571.4:p.Leu240Ile
ENST00000244571.4:c.718C>A (AARS2)	ENSP00000244571.4:p.Leu240Ile
ENST00000505802.1:c.855+3383G>T
NM_020745.3:c.718C>A (AARS2)	NP_065796.1:p.Leu240Ile
XM_005249245.2:c.718C>A (AARS2)	XP_005249302.1:p.Leu240Ile
XM_011514764.1:c.718C>A (AARS2)	XP_011513066.1:p.Leu240Ile
XR_241907.2:n.753C>A (AARS2)
XM_005249245.3:c.718C>A (AARS2)	XP_005249302.1:p.Leu240Ile
XM_011514764.2:c.718C>A (AARS2)	XP_011513066.1:p.Leu240Ile
XM_017011112.1:c.-301C>A (AARS2)	XP_016866601.1:n.-301C>A
NM_020745.4:c.718C>A (AARS2) MANE Select	NP_065796.2:p.Leu240Ile
NM_001318876.2:c.946-130865G>T (POLR1C)	NP_001305805.1:n.946-130865G>T