Canonical Allele Identifier: CA364342137

Gene: AARS2 POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44280939G>A (hg19) ; chr6:g.44313202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44313202G>A , CM000668.2:g.44313202G>A	GRCh38
NC_000006.11:g.44280939G>A , CM000668.1:g.44280939G>A	GRCh37
NC_000006.10:g.44388917G>A	NCBI36
NG_031952.1:g.5125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.122C>T (AARS2) MANE Select	ENSP00000244571.4:p.Ala41Val
ENST00000244571.4:c.122C>T (AARS2)	ENSP00000244571.4:p.Ala41Val
ENST00000505802.1:c.855+5560G>A
NM_020745.3:c.122C>T (AARS2)	NP_065796.1:p.Ala41Val
XM_005249245.2:c.122C>T (AARS2)	XP_005249302.1:p.Ala41Val
XM_011514764.1:c.122C>T (AARS2)	XP_011513066.1:p.Ala41Val
XR_241907.2:n.157C>T (AARS2)
XM_005249245.3:c.122C>T (AARS2)	XP_005249302.1:p.Ala41Val
XM_011514764.2:c.122C>T (AARS2)	XP_011513066.1:p.Ala41Val
NM_020745.4:c.122C>T (AARS2) MANE Select	NP_065796.2:p.Ala41Val
NM_001318876.2:c.946-128688G>A (POLR1C)	NP_001305805.1:n.946-128688G>A