Canonical Allele Identifier: CA450391001

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 1919398
• ClinVar RCV Id: RCV002594801
• MyVariant Identifiers: chr6:g.44271031G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303294G>A , CM000668.2:g.44303294G>A	GRCh38
NC_000006.11:g.44271031G>A , CM000668.1:g.44271031G>A	GRCh37
NC_000006.10:g.44379009G>A	NCBI36
NG_031952.1:g.15033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2137C>T (AARS2) MANE Select	ENSP00000244571.4:p.Leu713=
ENST00000244571.4:c.2137C>T (AARS2)	ENSP00000244571.4:p.Leu713=
ENST00000438774.2:c.577-3649G>A (TMEM151B)	ENSP00000409337.2:n.577-3649G>A
ENST00000505802.1:c.314-3649G>A
NM_020745.3:c.2137C>T (AARS2)	NP_065796.1:p.Leu713=
XM_005249245.2:c.1846C>T (AARS2)	XP_005249302.1:p.Leu616=
XM_011514764.1:c.2137C>T (AARS2)	XP_011513066.1:p.Leu713=
XR_241907.2:n.2172C>T (AARS2)
XM_005249245.3:c.1846C>T (AARS2)	XP_005249302.1:p.Leu616=
XM_011514764.2:c.2137C>T (AARS2)	XP_011513066.1:p.Leu713=
XM_017011112.1:c.847C>T (AARS2)	XP_016866601.1:p.Leu283=
NM_020745.4:c.2137C>T (AARS2) MANE Select	NP_065796.2:p.Leu713=
NM_001318876.2:c.946-138596G>A (POLR1C)	NP_001305805.1:n.946-138596G>A