Canonical Allele Identifier: CA3833812

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 1584588
• ClinVar RCV Id: RCV002112281
• dbSNP Id: rs371151506
• ExAC: 6:44268350 G / A
• gnomAD v2: 6-44268350-G-A
• gnomAD v3: 6-44300613-G-A
• gnomAD v4: 6-44300613-G-A
• MyVariant Identifiers: chr6:g.44268350G>A (hg19) ; chr6:g.44300613G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44300613G>A , CM000668.2:g.44300613G>A	GRCh38
NC_000006.11:g.44268350G>A , CM000668.1:g.44268350G>A	GRCh37
NC_000006.10:g.44376328G>A	NCBI36
NG_031952.1:g.17714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2892C>T (AARS2) MANE Select	ENSP00000244571.4:p.Thr964=
ENST00000244571.4:c.2892C>T (AARS2)	ENSP00000244571.4:p.Thr964=
ENST00000438774.2:c.577-6330G>A (TMEM151B)	ENSP00000409337.2:n.577-6330G>A
ENST00000491573.1:n.694C>T (AARS2)
ENST00000505802.1:c.314-6330G>A
NM_020745.3:c.2892C>T (AARS2)	NP_065796.1:p.Thr964=
XM_005249245.2:c.2601C>T (AARS2)	XP_005249302.1:p.Thr867=
XM_011514764.1:c.2793+543C>T (AARS2)	XP_011513066.1:n.2793+543C>T
XR_241907.2:n.2817C>T (AARS2)
XM_005249245.3:c.2601C>T (AARS2)	XP_005249302.1:p.Thr867=
XM_011514764.2:c.2793+543C>T (AARS2)	XP_011513066.1:n.2793+543C>T
XM_017011112.1:c.1602C>T (AARS2)	XP_016866601.1:p.Thr534=
NM_020745.4:c.2892C>T (AARS2) MANE Select	NP_065796.2:p.Thr964=
NM_001318876.2:c.946-141277G>A (POLR1C)	NP_001305805.1:n.946-141277G>A