Canonical Allele Identifier: CA3833972

Gene: AARS2 TMEM151B POLR1C

Linked Data

• ClinVar Variation Id: 2215853
• ClinVar RCV Id: RCV002656587
• dbSNP Id: rs561366620
• ExAC: 6:44270132 A / G
• gnomAD v2: 6-44270132-A-G
• gnomAD v3: 6-44302395-A-G
• gnomAD v4: 6-44302395-A-G
• MyVariant Identifiers: chr6:g.44270132A>G (hg19) ; chr6:g.44302395A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44302395A>G , CM000668.2:g.44302395A>G	GRCh38
NC_000006.11:g.44270132A>G , CM000668.1:g.44270132A>G	GRCh37
NC_000006.10:g.44378110A>G	NCBI36
NG_031952.1:g.15932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.2483T>C (AARS2) MANE Select	ENSP00000244571.4:p.Ile828Thr
ENST00000244571.4:c.2483T>C (AARS2)	ENSP00000244571.4:p.Ile828Thr
ENST00000438774.2:c.577-4548A>G (TMEM151B)	ENSP00000409337.2:n.577-4548A>G
ENST00000505802.1:c.314-4548A>G
NM_020745.3:c.2483T>C (AARS2)	NP_065796.1:p.Ile828Thr
XM_005249245.2:c.2192T>C (AARS2)	XP_005249302.1:p.Ile731Thr
XM_011514764.1:c.2483T>C (AARS2)	XP_011513066.1:p.Ile828Thr
XR_241907.2:n.2408T>C (AARS2)
XM_005249245.3:c.2192T>C (AARS2)	XP_005249302.1:p.Ile731Thr
XM_011514764.2:c.2483T>C (AARS2)	XP_011513066.1:p.Ile828Thr
XM_017011112.1:c.1193T>C (AARS2)	XP_016866601.1:p.Ile398Thr
NM_020745.4:c.2483T>C (AARS2) MANE Select	NP_065796.2:p.Ile828Thr
NM_001318876.2:c.946-139495A>G (POLR1C)	NP_001305805.1:n.946-139495A>G