Canonical Allele Identifier: CA364341028

Gene: AARS2 POLR1C

Linked Data

• gnomAD v4: 6-44311122-C-A
• MyVariant Identifiers: chr6:g.44278859C>A (hg19) ; chr6:g.44311122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311122C>A , CM000668.2:g.44311122C>A	GRCh38
NC_000006.11:g.44278859C>A , CM000668.1:g.44278859C>A	GRCh37
NC_000006.10:g.44386837C>A	NCBI36
NG_031952.1:g.7205G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.621G>T (AARS2) MANE Select	ENSP00000244571.4:p.Glu207Asp
ENST00000244571.4:c.621G>T (AARS2)	ENSP00000244571.4:p.Glu207Asp
ENST00000505802.1:c.855+3480C>A
NM_020745.3:c.621G>T (AARS2)	NP_065796.1:p.Glu207Asp
XM_005249245.2:c.621G>T (AARS2)	XP_005249302.1:p.Glu207Asp
XM_011514764.1:c.621G>T (AARS2)	XP_011513066.1:p.Glu207Asp
XR_241907.2:n.656G>T (AARS2)
XM_005249245.3:c.621G>T (AARS2)	XP_005249302.1:p.Glu207Asp
XM_011514764.2:c.621G>T (AARS2)	XP_011513066.1:p.Glu207Asp
XM_017011112.1:c.-398G>T (AARS2)	XP_016866601.1:n.-398G>T
NM_020745.4:c.621G>T (AARS2) MANE Select	NP_065796.2:p.Glu207Asp
NM_001318876.2:c.946-130768C>A (POLR1C)	NP_001305805.1:n.946-130768C>A