Canonical Allele Identifier: CA364341066

Gene: AARS2 POLR1C

Linked Data

• ClinVar Variation Id: 1717202
• ClinVar RCV Id: RCV002296356
• dbSNP Id: rs1306447247
• gnomAD v2: 6-44278876-A-G
• gnomAD v4: 6-44311139-A-G
• MyVariant Identifiers: chr6:g.44278876A>G (hg19) ; chr6:g.44311139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311139A>G , CM000668.2:g.44311139A>G	GRCh38
NC_000006.11:g.44278876A>G , CM000668.1:g.44278876A>G	GRCh37
NC_000006.10:g.44386854A>G	NCBI36
NG_031952.1:g.7188T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.604T>C (AARS2) MANE Select	ENSP00000244571.4:p.Ser202Pro
ENST00000244571.4:c.604T>C (AARS2)	ENSP00000244571.4:p.Ser202Pro
ENST00000505802.1:c.855+3497A>G
NM_020745.3:c.604T>C (AARS2)	NP_065796.1:p.Ser202Pro
XM_005249245.2:c.604T>C (AARS2)	XP_005249302.1:p.Ser202Pro
XM_011514764.1:c.604T>C (AARS2)	XP_011513066.1:p.Ser202Pro
XR_241907.2:n.639T>C (AARS2)
XM_005249245.3:c.604T>C (AARS2)	XP_005249302.1:p.Ser202Pro
XM_011514764.2:c.604T>C (AARS2)	XP_011513066.1:p.Ser202Pro
XM_017011112.1:c.-415T>C (AARS2)	XP_016866601.1:n.-415T>C
NM_020745.4:c.604T>C (AARS2) MANE Select	NP_065796.2:p.Ser202Pro
NM_001318876.2:c.946-130751A>G (POLR1C)	NP_001305805.1:n.946-130751A>G