Canonical Allele Identifier: CA364340791

Gene: AARS2 POLR1C

Linked Data

• dbSNP Id: rs1786302215
• gnomAD v4: 6-44311012-A-G
• MyVariant Identifiers: chr6:g.44278749A>G (hg19) ; chr6:g.44311012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.44311012A>G , CM000668.2:g.44311012A>G	GRCh38
NC_000006.11:g.44278749A>G , CM000668.1:g.44278749A>G	GRCh37
NC_000006.10:g.44386727A>G	NCBI36
NG_031952.1:g.7315T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000244571.5:c.731T>C (AARS2) MANE Select	ENSP00000244571.4:p.Val244Ala
ENST00000244571.4:c.731T>C (AARS2)	ENSP00000244571.4:p.Val244Ala
ENST00000505802.1:c.855+3370A>G
NM_020745.3:c.731T>C (AARS2)	NP_065796.1:p.Val244Ala
XM_005249245.2:c.731T>C (AARS2)	XP_005249302.1:p.Val244Ala
XM_011514764.1:c.731T>C (AARS2)	XP_011513066.1:p.Val244Ala
XR_241907.2:n.766T>C (AARS2)
XM_005249245.3:c.731T>C (AARS2)	XP_005249302.1:p.Val244Ala
XM_011514764.2:c.731T>C (AARS2)	XP_011513066.1:p.Val244Ala
XM_017011112.1:c.-288T>C (AARS2)	XP_016866601.1:n.-288T>C
NM_020745.4:c.731T>C (AARS2) MANE Select	NP_065796.2:p.Val244Ala
NM_001318876.2:c.946-130878A>G (POLR1C)	NP_001305805.1:n.946-130878A>G