Canonical Allele Identifier: CA364337692

Gene: AARS2 TMEM151B POLR1C

Linked Data

• MyVariant Identifiers: chr6:g.44271112C>T (hg19) ; chr6:g.44303375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303375C>T , CM000668.2:g.44303375C>T	GRCh38
NC_000006.11:g.44271112C>T , CM000668.1:g.44271112C>T	GRCh37
NC_000006.10:g.44379090C>T	NCBI36
NG_031952.1:g.14952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2056G>A (AARS2) MANE Select	ENSP00000244571.4:p.Glu686Lys
ENST00000244571.4:c.2056G>A (AARS2)	ENSP00000244571.4:p.Glu686Lys
ENST00000438774.2:c.577-3568C>T (TMEM151B)	ENSP00000409337.2:n.577-3568C>T
ENST00000505802.1:c.314-3568C>T
NM_020745.3:c.2056G>A (AARS2)	NP_065796.1:p.Glu686Lys
XM_005249245.2:c.1765G>A (AARS2)	XP_005249302.1:p.Glu589Lys
XM_011514764.1:c.2056G>A (AARS2)	XP_011513066.1:p.Glu686Lys
XR_241907.2:n.2091G>A (AARS2)
XM_005249245.3:c.1765G>A (AARS2)	XP_005249302.1:p.Glu589Lys
XM_011514764.2:c.2056G>A (AARS2)	XP_011513066.1:p.Glu686Lys
XM_017011112.1:c.766G>A (AARS2)	XP_016866601.1:p.Glu256Lys
NM_020745.4:c.2056G>A (AARS2) MANE Select	NP_065796.2:p.Glu686Lys
NM_001318876.2:c.946-138515C>T (POLR1C)	NP_001305805.1:n.946-138515C>T