Canonical Allele Identifier: CA364341080

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs756151860
• gnomAD v2: 6-44278884-C-G
• gnomAD v3: 6-44311147-C-G
• gnomAD v4: 6-44311147-C-G
• MyVariant Identifiers: chr6:g.44278884C>G (hg19) ; chr6:g.44311147C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311147C>G , CM000668.2:g.44311147C>G	GRCh38
NC_000006.11:g.44278884C>G , CM000668.1:g.44278884C>G	GRCh37
NC_000006.10:g.44386862C>G	NCBI36
NG_031952.1:g.7180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244571.5:c.596G>C (AARS2) MANE Select	ENSP00000244571.4:p.Arg199Pro
ENST00000244571.4:c.596G>C (AARS2)	ENSP00000244571.4:p.Arg199Pro
ENST00000505802.1:c.855+3505C>G
NM_020745.3:c.596G>C (AARS2)	NP_065796.1:p.Arg199Pro
XM_005249245.2:c.596G>C (AARS2)	XP_005249302.1:p.Arg199Pro
XM_011514764.1:c.596G>C (AARS2)	XP_011513066.1:p.Arg199Pro
XR_241907.2:n.631G>C (AARS2)
XM_005249245.3:c.596G>C (AARS2)	XP_005249302.1:p.Arg199Pro
XM_011514764.2:c.596G>C (AARS2)	XP_011513066.1:p.Arg199Pro
XM_017011112.1:c.-423G>C (AARS2)	XP_016866601.1:n.-423G>C
NM_020745.4:c.596G>C (AARS2) MANE Select	NP_065796.2:p.Arg199Pro
NM_001318876.2:c.946-130743C>G (POLR1C)	NP_001305805.1:n.946-130743C>G