Canonical Allele Identifier: CA289176

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 136213
• ClinVar RCV Id: RCV000123411 ; RCV000901939 ; RCV001165357
• dbSNP Id: rs150973108
• ExAC: 6:44271135 C / T
• gnomAD v2: 6-44271135-C-T
• gnomAD v3: 6-44303398-C-T
• gnomAD v4: 6-44303398-C-T
• MyVariant Identifiers: chr6:g.44271135C>T (hg19) ; chr6:g.44303398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303398C>T , CM000668.2:g.44303398C>T	GRCh38
NC_000006.11:g.44271135C>T , CM000668.1:g.44271135C>T	GRCh37
NC_000006.10:g.44379113C>T	NCBI36
NG_031952.1:g.14929G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.2033G>A (AARS2) MANE Select	ENSP00000244571.4:p.Arg678Gln
ENST00000244571.4:c.2033G>A (AARS2)	ENSP00000244571.4:p.Arg678Gln
ENST00000438774.2:c.577-3545C>T (TMEM151B)	ENSP00000409337.2:n.577-3545C>T
ENST00000505802.1:c.314-3545C>T
NM_020745.3:c.2033G>A (AARS2)	NP_065796.1:p.Arg678Gln
XM_005249245.2:c.1742G>A (AARS2)	XP_005249302.1:p.Arg581Gln
XM_011514764.1:c.2033G>A (AARS2)	XP_011513066.1:p.Arg678Gln
XR_241907.2:n.2068G>A (AARS2)
XM_005249245.3:c.1742G>A (AARS2)	XP_005249302.1:p.Arg581Gln
XM_011514764.2:c.2033G>A (AARS2)	XP_011513066.1:p.Arg678Gln
XM_017011112.1:c.743G>A (AARS2)	XP_016866601.1:p.Arg248Gln
NM_020745.4:c.2033G>A (AARS2) MANE Select	NP_065796.2:p.Arg678Gln
NM_001318876.2:c.946-138492C>T (POLR1C)	NP_001305805.1:n.946-138492C>T