Canonical Allele Identifier: CA364335517

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs1180606004
• gnomAD v2: 6-44268351-G-A
• gnomAD v4: 6-44300614-G-A
• MyVariant Identifiers: chr6:g.44268351G>A (hg19) ; chr6:g.44300614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300614G>A , CM000668.2:g.44300614G>A	GRCh38
NC_000006.11:g.44268351G>A , CM000668.1:g.44268351G>A	GRCh37
NC_000006.10:g.44376329G>A	NCBI36
NG_031952.1:g.17713C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2891C>T (AARS2) MANE Select	ENSP00000244571.4:p.Thr964Ile
ENST00000244571.4:c.2891C>T (AARS2)	ENSP00000244571.4:p.Thr964Ile
ENST00000438774.2:c.577-6329G>A (TMEM151B)	ENSP00000409337.2:n.577-6329G>A
ENST00000491573.1:n.693C>T (AARS2)
ENST00000505802.1:c.314-6329G>A
NM_020745.3:c.2891C>T (AARS2)	NP_065796.1:p.Thr964Ile
XM_005249245.2:c.2600C>T (AARS2)	XP_005249302.1:p.Thr867Ile
XM_011514764.1:c.2793+542C>T (AARS2)	XP_011513066.1:n.2793+542C>T
XR_241907.2:n.2816C>T (AARS2)
XM_005249245.3:c.2600C>T (AARS2)	XP_005249302.1:p.Thr867Ile
XM_011514764.2:c.2793+542C>T (AARS2)	XP_011513066.1:n.2793+542C>T
XM_017011112.1:c.1601C>T (AARS2)	XP_016866601.1:p.Thr534Ile
NM_020745.4:c.2891C>T (AARS2) MANE Select	NP_065796.2:p.Thr964Ile
NM_001318876.2:c.946-141276G>A (POLR1C)	NP_001305805.1:n.946-141276G>A