Canonical Allele Identifier: CA3833813

Gene: AARS2 TMEM151B POLR1C

Linked Data

• dbSNP Id: rs749953058
• ExAC: 6:44268362 C / G
• gnomAD v2: 6-44268362-C-G
• MyVariant Identifiers: chr6:g.44268362C>G (hg19) ; chr6:g.44300625C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300625C>G , CM000668.2:g.44300625C>G	GRCh38
NC_000006.11:g.44268362C>G , CM000668.1:g.44268362C>G	GRCh37
NC_000006.10:g.44376340C>G	NCBI36
NG_031952.1:g.17702G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2880G>C (AARS2) MANE Select	ENSP00000244571.4:p.Val960=
ENST00000244571.4:c.2880G>C (AARS2)	ENSP00000244571.4:p.Val960=
ENST00000438774.2:c.577-6318C>G (TMEM151B)	ENSP00000409337.2:n.577-6318C>G
ENST00000491573.1:n.682G>C (AARS2)
ENST00000505802.1:c.314-6318C>G
NM_020745.3:c.2880G>C (AARS2)	NP_065796.1:p.Val960=
XM_005249245.2:c.2589G>C (AARS2)	XP_005249302.1:p.Val863=
XM_011514764.1:c.2793+531G>C (AARS2)	XP_011513066.1:n.2793+531G>C
XR_241907.2:n.2805G>C (AARS2)
XM_005249245.3:c.2589G>C (AARS2)	XP_005249302.1:p.Val863=
XM_011514764.2:c.2793+531G>C (AARS2)	XP_011513066.1:n.2793+531G>C
XM_017011112.1:c.1590G>C (AARS2)	XP_016866601.1:p.Val530=
NM_020745.4:c.2880G>C (AARS2) MANE Select	NP_065796.2:p.Val960=
NM_001318876.2:c.946-141265C>G (POLR1C)	NP_001305805.1:n.946-141265C>G