Canonical Allele Identifier: CA3834113

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 2488798
• ClinVar RCV Id: RCV003217645
• dbSNP Id: rs771365295
• ExAC: 6:44271106 C / T
• gnomAD v2: 6-44271106-C-T
• gnomAD v4: 6-44303369-C-T
• MyVariant Identifiers: chr6:g.44271106C>T (hg19) ; chr6:g.44303369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44303369C>T , CM000668.2:g.44303369C>T	GRCh38
NC_000006.11:g.44271106C>T , CM000668.1:g.44271106C>T	GRCh37
NC_000006.10:g.44379084C>T	NCBI36
NG_031952.1:g.14958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2062G>A (AARS2) MANE Select	ENSP00000244571.4:p.Val688Met
ENST00000244571.4:c.2062G>A (AARS2)	ENSP00000244571.4:p.Val688Met
ENST00000438774.2:c.577-3574C>T (TMEM151B)	ENSP00000409337.2:n.577-3574C>T
ENST00000505802.1:c.314-3574C>T
NM_020745.3:c.2062G>A (AARS2)	NP_065796.1:p.Val688Met
XM_005249245.2:c.1771G>A (AARS2)	XP_005249302.1:p.Val591Met
XM_011514764.1:c.2062G>A (AARS2)	XP_011513066.1:p.Val688Met
XR_241907.2:n.2097G>A (AARS2)
XM_005249245.3:c.1771G>A (AARS2)	XP_005249302.1:p.Val591Met
XM_011514764.2:c.2062G>A (AARS2)	XP_011513066.1:p.Val688Met
XM_017011112.1:c.772G>A (AARS2)	XP_016866601.1:p.Val258Met
NM_020745.4:c.2062G>A (AARS2) MANE Select	NP_065796.2:p.Val688Met
NM_001318876.2:c.946-138521C>T (POLR1C)	NP_001305805.1:n.946-138521C>T